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Journal of Clinical Pediatrics    2024, 42 (1): 1-14.   DOI: 10.12372/jcp.2024.23e1129 Abstract （1057）   HTML （75）    PDF（pc） （743KB）（1176）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics

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Phenotypic characteristics and treatment strategies of severe bronchopulmonary dysplasia XIA Hongping, ZHANG Yongjun Journal of Clinical Pediatrics    2022, 40 (6): 401-406.   DOI: 10.12372/jcp.2022.22e0605 Abstract （885）   HTML （53）    PDF（pc） （1080KB）（485）       Knowledge map    Save Bronchopulmonary dysplasia (BPD) is one of the commonest and most serious complications in premature infants. Severe BPD (sBPD) is defined as premature infants receiving oxygen inhalation for at least 28 days and requiring oxygen concentration >30% or positive pressure ventilation at 36 weeks of corrected gestational age. Infants with sBPD may cause longterm death, cardiopulmonary dysfunction, failure to thrive, impaired cognitive development and motor retardation. With the improvement of survival rate of extremely premature infants in China, the incidence of sBPD has increased gradually. Due to the different pathophysiological mechanisms of different children, the phenotypes of diseases are greatly different, which brings considerable challenges to clinical diagnosis and treatment. In recent years, the diagnosis and treatment consensus at home and abroad has put forward the comprehensive management of the infants with sBPD through multidisciplinary team cooperation. In this review, the mechanism and clinical features of three disease components were introduced, including moderate-severe parenchymal disease, large airway disease and pulmonary hypertension. Respiratory support strategy, tracheostomy and drug treatment of pulmonary hypertension were also described. Neonatologists are expected to further improve the survival rate and prognosis of sBPD patients by strengthening the understanding of key pathophysiological and phenotypic characteristics of sBPD, establishing multidisciplinary team consultation mechanism and adopting targeted treatment strategies. Reference | Related Articles | Metrics

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Research progress of Mycoplasma pneumoniae vaccine ZHANG Haiqing, CHEN Yanping, ZHANG Jin Journal of Clinical Pediatrics    2022, 40 (8): 634-640.   DOI: 10.12372/jcp.2022.21e1322 Abstract （813）   HTML （42）    PDF（pc） （1256KB）（262）       Knowledge map    Save Mycoplasma pneumoniae (MP) is one of the main pathogens of community-acquired pneumonia, which can cause respiratory symptoms and other extrapulmonary complications. Macrolide antibiotics are the first choice for the treatment of MP infection. In recent years, with the increase of MP infection rate and the wide application of antibiotics, the situation of macrolide drug resistance is becoming more and more serious. Vaccine is the best scientific method to prevent and control the prevalence, infection and pathogenicity of germs. At present, animal MP vaccine has been marketed at home and abroad and achieved good protective effects, while MP vaccine for human is still in the research stage. Based on this, the MP related vaccine is reviewed in order to provide some reference for the development of human MP vaccine in the future. Reference | Related Articles | Metrics

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Clinical features of three patients with ZTTK syndrome caused by SON gene mutation ZHAO Peiwei, BI Bo, ZHANG Lei, HUANG Yufeng, TAN Li, HE Xuelian, ZHU Hongmin Journal of Clinical Pediatrics    2023, 41 (2): 113-116.   DOI: 10.12372/jcp.2023.22e0180 Abstract （727）   HTML （31）    PDF（pc） （1900KB）（287）       Knowledge map    Save Objective To investigate the clinical features and gene mutation of patients diagnosed with ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome). Method The clinical data of three cases of ZTTK syndrome were retrospectively analyzed. Whole exome sequencing was applied to analyze the patients' genetic variants, and Sanger sequencing was used to verify the variant loci. Results In this study, 3 patients, aged from 10 months to 3 years and 8 months, had clinical phenotypes of facial dysmorphism, developmental delay, intellectual disability, microcephaly and abnormal muscle tone, abnormal hand joint or foot valgus, pyelonephritis, cryptorchidism and premature closure of cranial suture. In two cases, sulcus widening and cerebral dysplasia were observed on brain MRI. We found de novo variation in SON gene in all three children, c.3020G>A (p.R1007H), c.1195delG (p.V399fsTer1) and c.5753_5756delTTAG (p.V1918EfsTer87). Conclusion This study reports three cases of ZTTK syndrome due to SON gene abnormalities, which expands the mutation spectrum of SON gene. In this paper, we report three cases of ZTTK syndrome, extending the spectrum of mutations in this gene. The clinical manifestations of ZTTK syndrome are of multisystem involvement; whole exome sequencing may help to make a clear clinical diagnosis. Table and Figures | Reference | Related Articles | Metrics

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Comparison of different estimation formulas of glomerular filtration rate in children aged 15-18 years with chronic kidney disease KUANG Qianhuining, GAO Chunlin, ZHU Hong, YANG Xiao, PENG Yingchao, XIA Zhengkun Journal of Clinical Pediatrics    2022, 40 (12): 905-911.   DOI: 10.12372/jcp.2022.21e1353 Abstract （688）   HTML （7）    PDF（pc） （1716KB）（144）       Knowledge map    Save Objective To compare the accuracy and applicability of eight estimation formulas for glomerular filtration rate (GFR) in children aged 15-18 years with chronic kidney disease (CKD). Methods Children with CKD hospitalized from January 2015 to March 2021 wereenrolled. Eight eGFR formulas (update Schwartz formula, CAPA formula, Counahan-Barratt formula, Filler formula, CKD-EPI-Scr2009, CKD-EPI-CysC2012, LMR18, FAS formula) were applied to estimate GFR. The Gates method of 99mTc-DTPA renal dynamic imaging was used as the gold standard GFR (sGFR) determination. The bias, precision and accuracy of each formula were compared, and the diagnostic efficacy of each formula for renal insufficiency was analyzed. Results A total of 88 children were enrolled, including 56 boys and 32 girls, and the median age was 17.0 (16.0-18.0) years. There were 56 cases of CKD stage 1, 18 cases of CKD stage 2, 11 cases of CKD stage 3, 2 cases of CKD stage 4, and 1 case of CKD stage 5. The eGFR in all formulas was positively correlated with sGFR (all P<0.001). The CKD-EPI-Scr2009 formula had the best correlation with sGFR (r=0.73), and the Filler formula had the worst correlation with sGFR (r=0.39). The CAPA, CKD-EPI-Scr2009 and FAS formulas overestimated the GFR on the overall level, while the other formulas underestimated GFR. When sGFR was used as the gold standard, the FAS formula had the smallest bias and the CAPA formula had the largest bias. In terms of precision, the LMR18 formula showed the best precision, followed by the update Schwartz formula, and the CAPA formula showed the worst precision. In terms of accuracy, the LMR18 formula showed the highest accuracy (P30=73.86%). ROC curve analysis showed that the area under the curve (AUC) of the CKD-EPI-Scr2009 formula was the largest (0.907), the sensitivity of CAPA, Filler, and CKD-EPI-CysC2012 formulas were the highest (95.90%), and the specificity of LMR18 and FAS formulas were the highest (85.71%). Conclusions Among the eight eGFR formulas, the accuracy of CysC-based formulas (CAPA, Filler and CKD-EPI-CysC2012 formula) is not as good as Scr-based formulas (update Schwartz, Counahan-Barratt, CKD-EPI-Scr2009, LMR18 and FAS formula), and LMR18 formula has the highest precision and accuracy. Table and Figures | Reference | Related Articles | Metrics

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Application of biological agents in idiopathic nephrotic syndrome WANG Qianhui, LIU Fei, FU Haidong, MAO Jianhua Journal of Clinical Pediatrics    2022, 40 (10): 787-794.   DOI: 10.12372/jcp.2022.21e1440 Abstract （652）   HTML （14）    PDF（pc） （1456KB）（212）       Knowledge map    Save Idiopathic nephrotic syndrome (INS) is the commonest glomerular disease in children. Refractory nephrotic syndromes such as frequent relapses, steroid dependence and steroid resistance are still the current difficulties in clinical INS treatment. In recent years, it has been reported that rituximab (RTX) and other biological agents have been used in the treatment of refractory nephrotic syndrome and have achieved good results. This article reviews the application progress of RTX and other biological agents in INS. Table and Figures | Reference | Related Articles | Metrics

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Comments on KDIGO 2021 Clinical Practice Guideline for the Management of Blood Pressure in Chronic Kidney Disease of Children ZHANG Pei, GAO Chunlin, XIA Zhengkun Journal of Clinical Pediatrics    2022, 40 (6): 469-474.   DOI: 10.12372/jcp.2022.21e1610 Abstract （644）   HTML （48）    PDF（pc） （1122KB）（465）       Knowledge map    Save Hypertension is an important complication of chronic kidney disease (CKD) and substantial cause for the occurrence and progression of CKD. In 2021, the Kidney Disease: Improving Global Outcomes (KDIGO) published clinical practice guideline for the management of blood pressure in CKD, which is mainly applicable to CKD patients who have not undergone dialysis. The content includes methods, control objectives and treatment of blood pressure measurement in CKD children. This article interprets the relevant content of the blood pressure management of CKD children in the guideline. Table and Figures | Reference | Related Articles | Metrics

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Neurodevelopmental disorder with spastic diplegia and visual defects by CTNNB1 gene mutation: a report of 5 Chinese cases with literature review PANG Kexin, WANG Pei, ZHU Min, LU Fen, TANG Jian, ZHANG Li Journal of Clinical Pediatrics    2022, 40 (8): 616-622.   DOI: 10.12372/jcp.2022.21e1421 Abstract （632）   HTML （35）    PDF（pc） （1499KB）（217）       Knowledge map    Save Objective To investigate the clinical characteristics and genetic variants of children with neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Methods A retrospective analysis was performed on the clinical manifestations, laboratory examinations, and genetic testing of 5 NEDSDV children diagnosed in the rehabilitation department of Nanjing Children's Hospital from 2014 to 2020, and the clinical manifestations and genetic characteristics of the patients were summarized together with literature review. Results All the five patients showed features of global developmental delay, microcephaly and spastic diplegia. Among them, patients 1, 2, 3, and 5 all had strabismus, and patient 5 had severe congenital retinal exudative abnormalities. Genetic testing identified de novo heterozygous mutations of CTNNB1 gene in all of the five patients, and all of them were truncated mutations (including nonsense and frameshift mutations), of which c.478_479insTAAATGA, c.1973dupT and c.625G>T were newly discovered mutations. Compared with 39 cases of genetically diagnosed patients reported abroad from 2001 to 2020 (including 5 adult cases), all but one child in this study had a slightly thinner corpus callosum, the other four cases showed no significant brain imaging abnormalities, and retinopathy was relatively rare. Conclusions Global developmental delay accompanied by microcephaly and spastic diplegia can be an indication for the suspected diagnosis of NEDSDV, while ocular lesions and brain imaging abnormalities are not necessary phenotypes for clinical diagnosis, and confirmation of diagnosis depends on genetic testing. The identification of three novel variants of CTNNB1 expands the pathogenic variants spectrum of NEDSDV. Table and Figures | Reference | Related Articles | Metrics

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T lymphocyte subsets and serum neuron-specific enolase levels in children with tic disorder and their clinical significance LI Weiqin, ZHANG Zilu, QIN Zhuo, ZHANG Liya, GUO Yue Journal of Clinical Pediatrics    2022, 40 (6): 456-460.   DOI: 10.12372/jcp.2022.21e1478 Abstract （600）   HTML （11）    PDF（pc） （1241KB）（102）       Knowledge map    Save Objective To investigate the association of T lymphocyte subsets and serum neuron-specific enolase (NSE) levels with the severity of tic symptoms and clinical types in Tic disorders (TD) children, and to analyze its clinical significance. Methods Clinical data of children with TD who attended one neurology clinic from June 2020 to June 2021 were collected. According to the Yale Global Tic Severity Scale (YGTSS), the children were divided into the mild TD group and the moderate to severe TD group. According to the DSM-V clinical classification standard, the TD group is divided into transient tic disorder group (TTD group), chronic exercise or vocal tic disorder group (CTD group), Tourette syndrome group (TS group). T lymphocyte subsets and NSE levels were compared between TD children and healthy children who underwent routine physical examination at the same time. Results A total of 180 TD children (TD group) were enrolled, including 141 boys and 39 girls, and the mean age was (7.3±2.3) years. There were 150 children (115 boys and 35 girls) in the control group, and the mean age was (7.4±2.2 years). The levels of CD3+, CD3+CD4+ and CD4+/CD8+ in TD group were lower than those in the control group, and the NSE level in TD group was higher than that in the control group, and the difference was statistically significant (P<0.001). The differences in CD3+, CD3+CD4+, CD4+/CD8+ and NSE levels between the mild TD group (n=73), the moderate to severe TD group (n=107) and the control group were statistically significant (P<0.05). The CD3+ level in the moderate to severe TD group was lower than that in the mild TD group and the control group, the NSE level in the moderate to severe TD group was higher than that in the mild TD group and the control group, and the difference was statistically significant (P<0.05). The NSE levels were significantly positively correlated with TD severity (r=0.82, P<0.001). The differences in CD3+, CD3+CD4+, CD4+/CD8+ and NSE levels between the TTD group (n=115), CTD group (n=42), TS group (n=23) and the control group were statistically significant (P<0.05). The levels of CD3+, CD3+, CD4+, CD4+/CD8+ in the TTD group, CTD group and TS group were lower than those in the control group, the NSE level was higher than that in the control group, and the differences were statistically significant (P<0.05). Conclusions T lymphocyte immunity disorder was found in TD children. The level of NSE increased, and the degree of elevation was related to the severity of the disease, but not to the clinical classification of the disease. Table and Figures | Reference | Related Articles | Metrics

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Journal of Clinical Pediatrics    2023, 41 (3): 224-228.   DOI: 10.12372/jcp.2023.22e0475 Abstract （600）   HTML （34）    PDF（pc） （1158KB）（1224）       Knowledge map    Save Reference | Related Articles | Metrics

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Diagnosis and treatment of postural tachycardia syndrome in children LIAO Ying Journal of Clinical Pediatrics    2022, 40 (7): 488-493.   DOI: 10.12372/jcp.2022.22e0412 Abstract （578）   HTML （38）    PDF（pc） （1248KB）（217）       Knowledge map    Save Postural orthostatic tachycardia syndrome (POTS) is a group of clinical syndromes characterized by chronic orthostatic intolerance and an excessive orthostatic heart rate increment. It is common both in children and adolescents and it can significantly affect children's learning and quality of life. POTS symptoms involve multiple systems and can be associated with multiple comorbidities. Since the clinical manifestations are complex, detailed history taking, correct interpretation of the results of standing test, careful differential diagnosis as well as comprehensive assessment of comorbidities are required when make a diagnosis of POTS for children. The pathogenesis of POTS mainly includes three core mechanisms: central hypovolemia, hyperadrenergic state and vascular dysfunction (partial autonomic neuropathy). In the treatment of POTS children, non-pharmacological therapy should be used as the basis. The main pathogenesis should be evaluated according to the clinical characteristics and certain biomarkers of the children, and attention should be paid to the management of comorbidities, so as to carry out individualized comprehensive treatment. Table and Figures | Reference | Related Articles | Metrics

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Advances in the diagnosis and treatment of neonatal necrotizing enterocolitis ZHU Xueping, QIAN Jihong Journal of Clinical Pediatrics    2022, 40 (9): 641-646.   DOI: 10.12372/jcp.2022.22e1060 Abstract （546）   HTML （70）    PDF（pc） （1168KB）（321）       Knowledge map    Save It is difficult to early identify necrotizing enterocolitis (NEC) and its severity of illness. The Bell staging criteria is widely utilized to diagnose and evaluate the severity of NEC in clinical practice. Thanks to much advancement that have been achieved in molecular biology and neonatology, the preventive and therapeutic strategies for NEC are significantly improved. However, the morbidity and mortality of NEC are still unchanged. In recent years, the combination of omics and clinical data to find relevant biomarkers for early prediction of NEC, the prevention of NEC by breastfeeding and maintenance of gut microbiota homeostasis, and the exploration of stem cell and exosome related treatment have all brought new directions for the diagnosis and treatment of NEC. These means above will bring some new hopes to reduce the morbidity and mortality of NEC and improve its long-term outcomes. Table and Figures | Reference | Related Articles | Metrics

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Clinical diagnosis and treatment of 5 cases with congenital mesoblastic nephroma and literature review ZHANG Dongdong, DONG Youhong, YUAN Xiaojun Journal of Clinical Pediatrics    2022, 40 (6): 450-455.   DOI: 10.12372/jcp.2022.21e1185 Abstract （539）   HTML （8）    PDF（pc） （1197KB）（134）       Knowledge map    Save Objective The clinical characteristics, treatment strategies and clinical outcomes of congenital mesoblastic nephroma (CMN) were retrospectively analyzed and CMN diagnosis and treatment were summarized. Methods The age at onset, tumor size, pathological classification, ETV6-NTRK fusion gene, treatment regimens and clinical outcomes of children newly diagnosed with CMN admitted to the Department of Pediatric Hematology/Oncology, Xinhua Hospital from January 2013 to December 2020 were analyzed. Results A total of 5 children with CMN were admitted in 7 years, including 4 boys and 1 girl. The median age of diagnosis was 4.5 months (0.3-11 months). In 3 patients, renal mass was found during obstetric examination, and CMN was diagnosed early after birth, and ETV6-NTRK fusion gene was negative. The CMN diagnosis age was older than 6 months in 2 patients, and the ETV6-NTRK fusion gene was positive. The tumor stages were stageⅠ (1 case), StageⅡ (1 case), and stage Ⅲ (3 cases). Pathological classification was as follows: 1 case was classical, 2 cases were cellular (stageⅡchild with epithelioid type), and 2 cases were mixed. All the children underwent surgery. One child received surgical resection after 2 cycles of neoadjuvant chemotherapy. The stage Ⅲ children received 9 cycles of VAC chemotherapy after surgery. The median follow-up time was 19 months (11-34 months). One stageⅡchild relapsed 1 year after the completion of combined treatment with surgery and chemotherapy, while the rest of the children were disease-free. Conclusions Most children with CMN have a good prognosis after surgery combined with adjuvant chemotherapy. The age of diagnosis is generally less than 1 year old, and some children can be diagnosed early because of obstetric examination. Surgery is still the main treatment, and postoperative follow-up can be applied for stage Ⅰ and Ⅱ patients. Postoperative adjuvant chemotherapy can reduce the recurrence rate in stage Ⅲ cases. Table and Figures | Reference | Related Articles | Metrics

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Clinical application of glomerular filtration rate in children GAO Chunlin Journal of Clinical Pediatrics    2022, 40 (12): 886-893.   DOI: 10.12372/jcp.2022.22e1222 Abstract （528）   HTML （17）    PDF（pc） （1455KB）（179）       Knowledge map    Save Glomerular filtration rate (GFR) is one of the important indicators to measure renal function status. It is used in the clinical diagnosis of chronic kidney disease (CKD) and its staging, selection of kidney transplant donors, setting of endpoint events in scientific research, etc. It is also an indispensable index in the fields of cancer treatment monitoring, clinical drug dose adjustment in ICU critical care treatment, drug toxicity monitoring and new drug development. GFR in children can be assessed by both estimation and detection. The estimation method has clinical practicability. The current equations used for eGFR in children are ethnically and geographically specific, and their accuracy is influenced by the population of the developed dataset. Schwartz 1987 version is widely used in China. It should be noted that this method is a colorimetric method for creatinine determination. Schwartz 2009 equation is also widely used, but its accuracy (P30) in Chinese children with CKD is low, which is less than 80%. New estimating equations from large samples of Chinese children are urgently needed. In cases where accurate GFR is required, the method of measuring GFR is used. This paper introduces the advantages, disadvantages and application status of indicators used to estimate and measure GFR in pediatrics. Table and Figures | Reference | Related Articles | Metrics

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Transfusion-associated necrotizing enterocolitis LEI Xiaoping, LUO Lijuan Journal of Clinical Pediatrics    2022, 40 (9): 647-653.   DOI: 10.12372/jcp.2022.22e0361 Abstract （515）   HTML （51）    PDF（pc） （1253KB）（251）       Knowledge map    Save Neonatal necrotizing enterocolitis (NEC) is a serious and life-threatening gastrointestinal disease in the neonatal period. The atypical clinical manifestations of NEC, especially in premature infants, are abdominal distension, vomiting, bloody stools and shock. At present, the widely known pathogenesis of NEC includes preterm birth, infection, hypoxia-ischemia and improper feeding, etc. In recent years, the association between red blood cell transfusion (RBCT) and NEC was widely concerned. This article reviewed the relationship between RBCT and NEC, the influence factors, possible pathologic mechanism and the prevention strategies of transfusion-associated necrotizing enterocolitis (TANEC). Based on the available evidences, the author believes that TANEC is a clinical condition. However, anemia is the basis for the onset of TANEC. Prevention of anemia and reasonable blood transfusion are the basic strategies to reduce TANEC. Table and Figures | Reference | Related Articles | Metrics

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Screening of newborns with hyperphenylalaninemia and analysis of PAH gene mutation and deletion MA Cuixia, Feng Lulu, Ma Qianqian, Li Yang, Feng Jizhen Journal of Clinical Pediatrics    2023, 41 (2): 98-102.   DOI: 10.12372/jcp.2023.21e1659 Abstract （467）   HTML （8）    PDF（pc） （3204KB）（193）       Knowledge map    Save Objective To understand the incidence, clinical typing, and variant characteristics of related genes in neonates with hyperphenylalaninemia (HPA) in Shijiazhuang. Methods 487,380 newborns underwent HPA screening in Shijiazhuang Disease Screening and Diagnosis Center from March 2017 to May 2021 were selected. The phenylalanine concentration in heel blood samples was detected by immunofluorescence, the phenylalanine hydroxylase (PAH) related genes of suspected positive children were detected by gene sequencing, and the target gene variants were verified by the Sanger sequencing in the parents of the children, and the results of gene sequencing were further compared with the normal people to fragment deletion regions. Results Among the 487,380 neonates, 191 were screened positive and 104 were diagnosed as HPA, all with PAH deficiency, with a prevalence of 1/4686. A total of 62 genetic variations were detected in 104 children, including 37 missense mutations, 10 splice mutations, 7 nonsense mutations, 2 synonymous mutations, 1 full code mutation and 5 heterozygous deletions. The most common variants of PAH gene are c.158G>A (18.7%), c.728G>A (10.5%), c.611A>G (6.7%), c.331C>T (4.8%) and c.721C>T (4.8%), and unreported gene fragment deletions (exon 6 heterozygous deletion) and gene variants (c.630T>G, c.61-1G>A, c.912+5G>A) were found. Conclusions The prevalence of HPA in Shijiazhuang was high at 1/4686; 62 PAH gene variants, including 5 fragment deletions, were identified; in addition, 5 unreported gene variants were found, which enriches the gene database. Table and Figures | Reference | Related Articles | Metrics

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Clinical consideration of viral pneumonia in children DONG Xiaoyan, MENG Chaoyue Journal of Clinical Pediatrics    2022, 40 (8): 561-565.   DOI: 10.12372/jcp.2022.22e0130 Abstract （452）   HTML （67）    PDF（pc） （1217KB）（451）       Knowledge map    Save Viral pneumonia plays an important role in community acquired pneumonia in children, which is also the main cause of severe pneumonia in children under 5 years old of age. This paper reviews some clinical problems in children with viral pneumonia, then realigns the clinical features and laboratory tests of viral pneumonia to restructure the understanding of the characteristics of viral pneumonia in children for achieving early recognition and intervention. Table and Figures | Reference | Related Articles | Metrics

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Diagnosis and treatment strategy of childhood-onset systemic lupus erythematosus ZHOU Wei Journal of Clinical Pediatrics    2022, 40 (10): 721-725.   DOI: 10.12372/jcp.2022.22e0849 Abstract （442）   HTML （65）    PDF（pc） （1204KB）（427）       Knowledge map    Save Childhood-onset systemic lupus erythematosus (cSLE) is an autoimmune disease characterized by multiple organ involvement, a large number of autoantibodies and low complement. The affected organs are prone to irreversible damage, which threatens the lives of children. This article introduces the clinical characteristics of cSLE, severe lupus and monogenic lupus, and summarizes the diagnosis methods, disease activity assessment, treat-to-target, treatment principles and treatment schemes for different organ involvement of cSLE, and puts forward the treatment strategy of combination of traditional treatment and biological drugs, so as to better target the pathogenesis of cSLE, fully treat and control disease activity as soon as possible, reduce disease recurrence and side effects of traditional drugs, and provide reference for the continuous improvement of diagnosis and treatment of cSLE. Reference | Related Articles | Metrics

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TBCD gene variation causing tubulinopathy with atypical spinal muscular atrophy: one case report ZHOU Lulu, DING Le, ZHENG Guo Journal of Clinical Pediatrics    2022, 40 (11): 854-857.   DOI: 10.12372/jcp.2022.21e1128 Abstract （429）   HTML （11）    PDF（pc） （1404KB）（227）       Knowledge map    Save Tubulinopathy is a rare autosomal recessive hereditary disease caused by TBCD variation and characterized by early-onset progressive encephalopathy. The patient was a boy aged 11 months. At the age of 8 months, he had a febrile convulsion which was a focal seizure. It appeared after bathing or fever in his early stage, and convulsions occurred at any time in the later stage. Since the onset of the disease, the psychomotor function has been progressively retrogressed. At the age of 11 months, the activity of his limbs gradually decreased, and the results of electromyography showed extensive neurogenic damage. The cranial magnetic resonance imaging showed the widened sulcus, thinned corpus callosum and cerebral dysplasia. The results of whole exome gene sequencing indicated that the child carried complex heterozygous variations of TBCD gene: a heterozygous missense variation of c.230A>G (p.H77R) in exon 2 and a heterozygous termination variation of c.1306C>T (p.R436*, 757) in exon 13. The two variants have not been reported. The father carried c.230A>G variation, and the mother carried c.1306C>T variation. Finally, the child was diagnosed with tubulinopathy with atypical spinal muscular atrophy (SMA). At the age of 1 year and 4 months, the child was treated with four antiepileptic drugs and had fewer convulsions. The phenotype in this case was accompanied by atypical SMA, which enriched the clinical phenotypes spectrum of the disease. A new termination mutation and a new missense mutation detected by genetic testing enlarged the TBCD gene variation spectrum. Table and Figures | Reference | Related Articles | Metrics

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17q12 microdeletion syndrome: a report of three cases and literature review XU Yongli, YANG Jing, ZHOU Lanqi, ZHOU Jianhua Journal of Clinical Pediatrics    2023, 41 (1): 60-65.   DOI: 10.12372/jcp.2023.22e0461 Abstract （417）   HTML （9）    PDF（pc） （1948KB）（245）       Knowledge map    Save Objective To summarize the clinical characteristics of chromosomal 17q12 microdeletion syndrome in children in order to improve the understanding of the disease. Methods The clinical data of 3 children with chromosomal 17q12 microdeletion syndrome admitted from October 2014 to October 2021 were retrospectively analyzed. Genome-wide chromosomal copy number variation was detected by second-generation sequencing and the relevant literature was reviewed. Results Large deletions (1.89Mb, 1.4Mb and 1.8Mb, respectively) were found on chromosome 17q12 of 3 children (2 boys and 1 girl), and the deletions were all de novo variations. All three patients had renal cysts, hyperuricemia and elevated alkaline phosphatase. Two patients had unilateral renal dysplasia and proteinuria. Two patients had hypomagnesemia, 2 had hypercholesterolemia, 2 had diabetes mellitus, and 1 had elevated liver enzymes. Conclusions Chromosome 17q12 microdeletion syndrome is a rare genetic disorder affecting multiple organ systems, mainly manifesting as renal cysts and dysplasia, as well as metabolic and endocrine abnormalities such as diabetes, hyperuricemia, and hypercholesterolemia. Table and Figures | Reference | Related Articles | Metrics

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The research progress of acute lymphoblastic leukemia with thromboembolism in children LI Beiduo, SHAO Jingbo Journal of Clinical Pediatrics    2022, 40 (6): 475-480.   DOI: 10.12372/jcp.2022.22e0158 Abstract （398）   HTML （22）    PDF（pc） （1079KB）（133）       Knowledge map    Save Acute lymphoblastic leukemia (ALL) is the commonest hematological malignancy in children, and also the commonest malignant tumor associated with thrombosis. Thromboembolism and abnormal coagulation function in children are related to chemotherapy drugs, infection, deep vein catheterization and genetic factors, and can endanger life in severe cases. This article reviewed the pathogenesis, clinical characteristics, risk factors and treatment progress of thromboembolism in children with ALL, in order to improve the understanding of thromboembolism in children with ALL. Reference | Related Articles | Metrics

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Concerns about diagnosis and treatment of bronchopulmonary dysplasia LI Fang, LIU Liting Journal of Clinical Pediatrics    2022, 40 (6): 413-419.   DOI: 10.12372/jcp.2022.22e0333 Abstract （394）   HTML （19）    PDF（pc） （1216KB）（320）       Knowledge map    Save Bronchopulmonary dysplasia (BPD) is the commonest chronic lung disease in premature infants, especially in very and extremely low birth weight infant. BPD affects the survival rate and the quality of life of premature infants. At present, the incidence of BPD remains high. With the in-depth understanding of BPD, the diagnostic criteria of BPD are constantly revised, and the treatment methods are constantly improved and perfected. However, the selection of diagnostic criteria for BPD, the selection of respiratory support mode in treatment and the use of glucocorticoids are still problems that clinicians are confused and concerned about. This manuscript compared the different diagnostic criteria of BPD, which are all commonly used in the last decade. In addition, we discussed respiratory support management and glucocorticoid use in the prevention and treatment of BPD in neonates. Table and Figures | Reference | Related Articles | Metrics

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Sporadic MYH9 related diseases in children: a case report ZHANG Lining, SUN Lei, KUANG Xinyu, WANG Ping, KANG Yulin, WU Ying, HUANG Wenyan Journal of Clinical Pediatrics    2022, 40 (8): 623-626.   DOI: 10.12372/jcp.2022.21e1061 Abstract （392）   HTML （36）    PDF（pc） （1517KB）（128）       Knowledge map    Save Nonmuscle myosin heavy chain 9 related diseases (MYH9-RD) are part of the causes of hereditary thrombocytopenia, and are often accompanied by renal injury, sensorineural deafness, cataract and other manifestations other than blood system. The patient was a 13-year-old girl with thrombocytopenia for more than 12 years and hematuria and proteinuria for more than 4 years. Peripheral blood smear microscopy showed a decrease in platelet count [(10-30)×109/L] and an increase in platelet volume. Urine routine examination showed protein (+++) and erythrocyte (15-17/HP). The 24-hour urine protein quantification was 4.34 g [equivalent to 76 mg/(kg·d)]. Pure tone threshold measurement suggested high-frequency hearing impairment, and ophthalmic examination showed early-onset cataract. Genetic testing confirmed that the child had a heterozygous variation at c.2104c > t (p.r702c) of MYH9 gene, which was a reported pathogenic variation. Pedigree verification indicated that both parents and elder brother were wild type. MYH9-RD was subsequently diagnosed. Although the child was treated with valsartan and cyclosporine successively, renal damage continued to progress and entered to CKD2 stage. Cataract and hearing impairment were also worsened. For children with refractory thrombocytopenia, it is necessary to be alerted to the possibility of MYH9-RD, and genetic testing is helpful for early diagnosis. Table and Figures | Reference | Related Articles | Metrics

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Clinical analysis of 23 HIV-negative children with Talaromyces marneffei infections ZENG Senqiang, FAN Huifeng, LIN Haiyang, LIANG Yufeng, ZHANG Dongwei, LU Gen Journal of Clinical Pediatrics    2022, 40 (6): 446-449.   DOI: 10.12372/jcp.2022.21e1072 Abstract （389）   HTML （3）    PDF（pc） （1432KB）（94）       Knowledge map    Save Objective To explore clinical characteristics and treatment of Talaromyces marneffei (T. marneffei) infection in HIV-negative children, so as to improve the diagnosis of T. marneffei infection in children. Methods The clinical data of 23 HIV-negative children with T. marneffei infection were retrospectively analyzed, and the demographic characteristics, clinical manifestations, laboratory tests, complications, treatment and outcome were summarized. Results Twenty-three children (15 boys and 8 girls) were included, with a median age of 22 months (3 months to 13 years). The main clinical features were fever (22/23, 95.7%), cough (18/23,78.3%) and hepatomegaly (18/23,78.3%), and skin involvement was found in 9 cases (39.1%). Common severe complications included septic shock (13/23, 56.5%), hemophagocytic syndrome (12/23, 52.2%), acute respiratory distress syndrome (11/23, 47.8%) and multiple organ dysfunction syndrome (10/23, 43.5%). Serum IgG decreased in 7 cases, IgM increased in 6 cases, IgE increased in 9 cases, and NK cell count decreased in 13 cases. Eleven children were tested by genetic testing and 6 of them were found to have primary immunodeficiency disease. T. marneffei was cultured from specimens of blood in 87% cases (20/23). Nine of them were also confirmed by bone marrow culture. Another two cases were diagnosed by skin biopsies and next-generation sequencing (NGS) of alveolar lavage fluid, respectively. Twenty cases received antifungal therapy. Twelve cases (52.2%) died at last, though 9 of them had received antifungal therapy. Conclusions The clinical manifestations of HIV-negative children with T. marneffei infection were not typical with serious complications and high mortality rate. Early identification and blood culture and bone marrow culture can improve the detection rate, and fluid NGS, especially alveolar lavage fluid, is a promising detection method. Early detection and timely treatment may help to improve the prognosis of T. marneffei infection. Table and Figures | Reference | Related Articles | Metrics

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Clinical significance of perinuclear anti-neutrophil cytoplasmic antibody in children with systemic lupus erythematosus HE Ping, SHEN Jia, XU Dan, WANG Ziyan Journal of Clinical Pediatrics    2022, 40 (10): 739-744.   DOI: 10.12372/jcp.2022.21e1211 Abstract （386）   HTML （7）    PDF（pc） （1277KB）（687）       Knowledge map    Save Objective To investigate the clinical significance of perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) in children with systemic lupus erythematosus. Methods The clinical data of SLE children treated from January 2016 to July 2021 were retrospectively analyzed. The autoantibody related indexes, immune function, renal function and renal pathology of pANCA positive and negative children were analyzed. Results A total of 191 SLE children (160 girls and 31 boys) were enrolled, and the average age was (12.0±3.5) years. There were 81 children in pANCA positive group, among whom 26 were formaldehyde-resistant pANCA positive and 55 were formaldehyde-sensitive pANCA positive. Anti-myeloperoxidase (MPO) antibody was positive in 29 children, accounting for 35.8% of pANCA positive children. Compared with pANCA negative group, children in pANCA positive group had higher ESR, lower Hb, and higher positive rates of antinuclear antibody, anti-double-stranded DNA (dsDNA) antibody, anti-Sjögren's-syndrome-related antigen A (SSA) autoantibody, anticentromere protein B (CENP-B) antibody, anti-histone antibody, anti-ribosome ribonucleoprotein (rRNP) antibody, anti-nucleosome antibody and anti-Ro-52 antibody. The differences were statistically significant (P<0.05). Compared with pANCA negative group, pANCA positive group had lower levels of complement C3 and C4, higher levels of urinary creatinine (UCr), urinary immunoglobulin G/UCr, α1-microglobulin/UCr, β1-microglobulin/UCr and urinary microalbumin/UCr, and higher proportion of urinary occult blood and urinary protein, and the differences were statistically significant (P<0.05). A total of 112 children with SLE underwent renal biopsy. Compared with the pANCA negative group, the proportion of mesangial hyperplasia and the deposition proportion of IgG, IgM, IgA, C1q and C3 in glomerular mesangium and capillary loop was higher in the pANCA positive group, and the differences were statistically significant (P<0.05). Conclusions In children with SLE, pANCA positive children are more likely to have renal injury and more severe symptoms. Table and Figures | Reference | Related Articles | Metrics

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Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report LI Fengchao, ZHANG Yinhong, LYU Tao, ZHU Baosheng, HAN Siqi, CAI Shiyan, LI Li Journal of Clinical Pediatrics    2022, 40 (6): 465-468.   DOI: 10.12372/jcp.2022.21e0944 Abstract （381）   HTML （19）    PDF（pc） （1315KB）（192）       Knowledge map    Save Lesch-Nyhan syndrome is a rare X-linked recessive genetic disease. Before the occurrence of self-injury, it could be misdiagnosed as cerebral palsy. The proband, male, 8 years and 7 months old, was admitted to the clinic due to over 8 years of developmental retardation and abnormal muscle tone. Multiple blood biochemical tests showed that uric acid was increased. Genetic analysis results confirmed that the patient had c.200 _ 201delTG variation of HPRT1 gene, which was rated as a suspected pathogenic variation by ACMG. Sanger sequencing confirmed that the variation was inherited from the mother and was an unreported new variation, thus the child was diagnosed with HPRT1 gene-associated Lesch-Nyhan syndrome. After oral allopurinol tablets and sodium bicarbonate tablets for 6 months, the level of uric acid decreased significantly, and there was no self-injury behavior. In patients with unexplained cerebral palsy, genetic examination should be performed as early as possible to help early diagnosis and genetic counseling. Table and Figures | Reference | Related Articles | Metrics

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Clinical imaging and pathological analysis of fibro-adipose vascular anomaly in children WANG Xueli, CHEN Lian, WANG Qingyu, ZHANG Bin Journal of Clinical Pediatrics    2022, 40 (12): 939-943.   DOI: 10.12372/jcp.2022.22e0863 Abstract （372）   HTML （12）    PDF（pc） （1959KB）（427）       Knowledge map    Save Objective To summarize the clinicopathological features of fibro-adipose vascular anomaly (FAVA) in children, explore its diagnosis and treatment, improve the understanding of the disease by clinicians and pathologists, and reduce the rate of misdiagnosis. Methods The clinical data of 22 children with suspected FAVA admitted from July 2016 to February 2022 were retrospectively analyzed. According to the clinical data, the clinical characteristics were analyzed, and the key points of imaging and pathological diagnosis were summarized. Results Twenty-two patients (11 boys and 11 girls, with mean age of 7.22 years) met the clinical, radiological, and histopathological inclusion criteria for FAVA. The clinical presentation is a slow-growing mass with pain and/or contracture. Magnetic resonance imaging showed heterogeneous intramuscular, intermuscular or subcutaneous high and low signal mixed diffuse lesions with venous dilatation. Pathological findings included dense fibrous tissue in skeletal muscle, excessive fat, focal aggregation of blood vessels, lymphatics and lymphocytes and plasma cells, vascular hyperplasia, and skeletal muscle atrophy. In 22 cases, except for 2 cases of palliative resection and 1 case of local disengagement surgery, the remaining 19 cases underwent macroscopic complete resection. The follow-up period ranged from 2 months to 5 years and 10 months. Two children recurred, with a recurrence rate of 10.5%. The pain disappeared in all children except the recurrence cases.Conclusions Early surgery is recommended for vascular tumors/malformations that do not respond to repeated sclerotherapy and for those that cannot be clearly diagnosed clinically or radiographically. Postoperative pathology can confirm the diagnosis, and surgery can achieve the purpose of treatment. Table and Figures | Reference | Related Articles | Metrics

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Gene mutation analysis and long-term follow-up of 6-pyruvoyltetrahydropterin synthase deficiency in Qingdao ZHONG Yaoyao, ZHANG Liqin, DU Wei, LU Weibing, LIU Tingting Journal of Clinical Pediatrics    2023, 41 (2): 103-107.   DOI: 10.12372/jcp.2023.22e1473 Abstract （357）   HTML （13）    PDF（pc） （1240KB）（347）       Knowledge map    Save Objective To investigate the screening, clinical manifestations, genetic variants and long-term follow-up results of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) in Qingdao. Methods Two hundred and fifty-one children with hyperphenylalaninemia (HPA) in Qingdao Women and Children's Hospital from November 1998 to December 2021 were included, and urinary pterin profile test, erythrocyte dihydropteroate reductase activity test, tetrahydrobiopterin (BH4) loading test, and genetic test were performed to confirm the diagnosis of PTPSD. The incidence, gene mutations and long-term follow-up of PTPSD were analyzed. Results Twenty-six children were diagnosed as tetrahydrobioptenin deficiency (BH4D), all PTPSD, and the incidence of PTPSD among newborns in Qingdao was 12.7 per million. 19 children (from 17 families) underwent genetic testing, and 10 variants were detected among 34 alleles of PTS, with the higher frequency of variants being c.259C>T (29.4%, 10/34), and the rest were c.286G>A (14.7%, 5/34), c.272A>G (14.7%, 5/34), c.84-291A>G (8.8%, 3/34), c.166G>A (8.8%, 3/34), c.276T>A (8.8%, 3/34 ), and the variant sites were mainly concentrated in exon 5 (67.6%, 23/34). Among them, c.200C>T, c.259C>T and c.286G>A may be associated with severe PTPSD. Conclusion The incidence of PTPSD in Qingdao is 12.7/ million in 1996-2021, and the hotspot variants of PTS gene are c.259C>T, c.286G>A, c.272A>G. Establishment of a complete integrated management system of newborn disease screening-diagnosis-treatment-long-term follow-up-assistance is a powerful measure to achieve a tertiary prevention of birth defects and reduce the occurrence of disabled children. Table and Figures | Reference | Related Articles | Metrics

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Current status of probiotics for prevention and treatment of allergic diseases in children YAN Yongdong, WANG Ting, HUA Jie Journal of Clinical Pediatrics    2022, 40 (8): 573-579.   DOI: 10.12372/jcp.2022.22e0133 Abstract （357）   HTML （41）    PDF（pc） （1575KB）（231）       Knowledge map    Save The prevalence of allergic diseases is increasing worldwide, which seriously affects the health and quality of life of patients. More and more evidences support that intestinal dysbiosis is related to the occurrence, development and outcome of allergic diseases. Probiotics can play a certain role in the prevention and treatment of allergic diseases by correcting dysbiosis, maintaining mucosal barrier, regulating immune function. This article reviews the research and application status of probiotics in children with food allergy, atopic dermatitis, asthma and allergic rhinitis in recent years, and provides reference for clinicians. Reference | Related Articles | Metrics

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SARS-CoV-2 Omicron variant infection in children: clinical manifestations and biological basis XU Yanwen, WANG Qun, XIANG Linjuan, HUANG Lisu Journal of Clinical Pediatrics    2022, 40 (10): 795-800.   DOI: 10.12372/jcp.2022.22e0783 Abstract （347）   HTML （8）    PDF（pc） （1248KB）（191）       Knowledge map    Save With the continuous evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), many variants have emerged. A new variant, Omicron, has become the dominant Covid strain globally. The emergence of Omicron not only led to a significant increase in the number of cases in children, but also brought some special symptoms to pediatric patients. For example, Omicron mainly affects the upper respiratory tract, with more acute laryngitis and less pneumonia. These clinical features have biological basis, such as high variation of viral spike protein, increased affinity with host receptors, transition of invasion pathway of host cells, and weakened syncytial formation ability, which lead to significant changes in infectivity, transmissibility, clinical phenotype, pathogenicity and immune evasion capabilities of Omicron. And this brings about the difference in prevention, treatment and prognosis. This article reviews the clinical manifestations and biological basis of Omicron infection in children. Reference | Related Articles | Metrics

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Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference Andrew S Levey, Kai-Uwe Eckardt, Nijsje M Dorman, Stacy L Christiansen, Ewout J Hoorn, Julie R Ingelfinger, Lesley A Inker, Adeera Levin, Rajnish Mehrotra, Paul M Palevsky, Mark A Perazella, Allison Tong, Susan J Allison, Detlef Bockenhauer, Josephine P Briggs, Jonathan S Bromberg, Andrew Davenport, Harold I Feldman, Denis Fouque, Ron T Gansevoort, John S Gill, Eddie L Greene, Brenda R Hemmelgarn, Matthias Kretzler, Mark Lambie, Pascale H Lane, Joseph Laycock, Shari E Leventhal, Michael Mittelman, Patricia Morrissey, Marlies Ostermann, Lesley Rees, Pierre Ronco, Franz Schaefer, Jennifer St Clair Russell, Caroline Vinck, Stephen B Walsh, Daniel E Weiner, Michael Cheung, Michel Jadoul, Wolfgang C Winkelmayer Journal of Clinical Pediatrics    2022, 40 (8): 627-633.   DOI: 10.12372/jcp.2022.22e0124 Abstract （345）   HTML （24）    PDF（pc） （1358KB）（244）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics

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Research status of predictive model for IVIG resistance in Kawasaki disease HUANG Yujuan, HUANG Min Journal of Clinical Pediatrics    2022, 40 (7): 481-487.   DOI: 10.12372/jcp.2022.22e0740 Abstract （344）   HTML （42）    PDF（pc） （1132KB）（227）       Knowledge map    Save Kawasaki disease (KD) is an acute autoimmune systemic vasculitis, which is the leading cause of acquired heart disease in children in developed countries. The most serious consequence of KD is coronary artery diseases (CALs), which is associated with the prognosis of KD. Studies have confirmed that intravenous immunoglobulin (IVIG) resistance is an independent risk factor for CALs. In recent years, a series of predictive models have been developed to assess the risk of IVIG resistance. However, at present, the IVIG drug resistance prediction scoring system based on the demographic characteristics, clinical manifestations, laboratory tests and genetic characteristics of KD children has significant differences among different ethnic groups and among populations in different regions of the same ethnic group, and no prediction model suitable for the general population has been established. Reference | Related Articles | Metrics

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Neonatal severe hyperparathyroidism caused by novel variation in CASR gene: a case report WANG Yingcan, TAN Jintong, CHEN Yan, HUANG Qi, XIA Hongping Journal of Clinical Pediatrics    2022, 40 (6): 442-445.   DOI: 10.12372/jcp.2022.21e1090 Abstract （339）   HTML （6）    PDF（pc） （1357KB）（177）       Knowledge map    Save To improve the understanding of neonatal severe hyperparathyroidism (NSHPT). The clinical data, gene test result, treatment and prognosis of a child with NSHPT were retrospectively analyzed. A 14-day-old female infant presented with hyperbilirubinemia, poor feeding, lethargy, hypotonia, severe hypercalcemia and hyperparathyroidism 4 days after birth. She was found to carry novel compound heterozygous mutations of c.888C > A (p. Ser296Arg) (from father) and c.1576G > T (p. Glu526Ter) (from mother) in the CASR gene. The infant received multiple-dose intravenous zoledronate. After the drug treatment, symptoms improved including sucking, reaction and muscle tension. Serum calcium decreased obviously at first, but increased again after one week. Unilateral parathyroidectomy was performed 54 days after birth. Postoperative serum calcium reduced and the patient was discharged 64 days after birth. At 17 months of follow-up, the patient showed delayed growth and neurodevelopmental retardation. NSHPT is caused by an inactivation variation of the CASR gene and is characterized by severe hypercalcemia and hyperparathyroidism with growth retardation. Total parathyroidectomy is the first choice of treatment, bisphosphonates may have a certain effect. Table and Figures | Reference | Related Articles | Metrics

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Clinical effect of belizumab on 17 children with systemic lupus erythematosus GAO Yutong, HE Xiaoliang, CHEN Denghuan, HANG Shouwei, CHEN Yuqing Journal of Clinical Pediatrics    2022, 40 (10): 745-749.   DOI: 10.12372/jcp.2022.22e0328 Abstract （339）   HTML （18）    PDF（pc） （1287KB）（338）       Knowledge map    Save Objective To investigate the efficacy and safety of belizumab in the treatment of children with systemic lupus erythematosus (SLE). Methods The clinical data of SLE children who completed 28-week treatment with beliumab from January 1, 2020 to December 31, 2021 were retrospectively analyzed. Results A total of 17 children (5 boys and 12 girls) were enrolled, and the average age was (12.1±2.3) years. The median disease duration from onset to targeted drug therapy was 5.0 (1.0-22.0) months. Compared with the pre-treatment group, the proportion of rash, fever, lupus nephritis and blood system damage decreased, the CD3+ and CD4+ cell counts increased, the CD19+ cell counts decreased, the positive rate of anti-ds-DNA decreased, and the dosage of glucocorticoids decreased in the post-treatment group, and the differences were statistically significant (P<0.05). There was significant difference in the systemic lupus erythematosus disease activity index (SLEDAI-2000) at different time points (weeks 0, 2, 4, 8, 12, 16, 20, 24 and 28) after beliumab treatment (P<0.01), and the score showed a downward trend. Among the 17 SLE children, 5 (29.4%) achieved lupus low disease activity state (LLDAS) and 3 (17.6%) achieved clinical remission by the end of observation (week 28). There was no complication of serious infection and no allergic reaction to belizumab. Conclusions Beliumab combined with traditional drugs in the treatment of SLE may help children more easily achieve LLDAS and clinical remission without severe adverse effects. Table and Figures | Reference | Related Articles | Metrics

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Expert consensus on the treatment and rehabilitation management of chronic airway inflammation-related diseases in children Journal of Clinical Pediatrics    2022, 40 (10): 770-781.   DOI: 10.12372/jcp.2022.22e1089 Abstract （336）   HTML （27）    PDF（pc） （1349KB）（366）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics

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Clinical and genetic analysis of children with 3-hydroxy-3-methyglutaryl-coenzyme A lyase deficiency CHANG Guoying, LING Shiying, QIU Wenjuan, ZHANG Huiwen, LIANG Lili, GU Xuefan, HAN Lianshu Journal of Clinical Pediatrics    2023, 41 (4): 278-283.   DOI: 10.12372/jcp.2023.22e0624 Abstract （336）   HTML （26）    PDF（pc） （1431KB）（199）       Knowledge map    Save Objective To analyze the clinical characteristics and gene variation for children with 3-hydroxy-3-methyglutaryl-coenzyme A lyase deficiency (HMGCLD). Methods The clinical data and genetic sequencing results of children with HMGCLD were analyzed. Results There were 6 patients (3 boys and 3 girls). One patient had a positive family history. Neonatal screening in the local hospital indicated HMGCLD in 3 patients, 2 patients were clinically diagnosed after the onset of the disease, and 1 patient remained disease-free. The onset age of 5 patients ranged from 10 days to 5 years and the age of first diagnosis ranged from 1 month to 7 years. There were metabolic crisis, hypoglycemia and hyperlactatemia in different degrees at the onset of the disease. Two patients died. Blood tandem mass spectrometry showed an increase in 3-hydroxyisovaleryl carnitine (C5-OH), and some of the children were accompanied by an increase in hexanedioyl carnitine (C6DC). Urine organic acid analysis showed that 3-hydroxy-3-methylglutaric acid increased significantly, along with 3-methylpentene acid and 3-hydroxyisovaleric acid. The HMGCL gene variation was found in 4 patients. Two patients had a homozygous variation of c.122G>A (p.R41Q), 1 patient had a homozygous variation of c.697C>T (p.H233Y) and 1 patient had a complex heterozygous variation of c.145-2A>G and c.590G>A (p.C197Y). Among them, c.697C>T (p.H233Y), c.145-2A>G, and c.590G>A (p.C197Y) were all reported for the first time. Protein structure was predicted to be potentially harmful, and the grade of ACMG was likely pathogenic. The other two children did not undergo genetic testing. Conclusions The clinical phenotype of HMGCLD is diverse, which can be confirmed by combining blood tandem mass spectrometry, urine organic acid analysis and gene diagnosis. Screening of HMGCLD is helpful for early diagnosis and reasonable treatment. Table and Figures | Reference | Related Articles | Metrics

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Clinical analysis of urea cycle disorders in 5 neonates CHU Xiaoyun, SUN Yifan, YAN Chongbing, HONG Wenchao, GONG Xiaohui, CAI Cheng Journal of Clinical Pediatrics    2023, 41 (4): 266-271.   DOI: 10.12372/jcp.2023.22e1656 Abstract （334）   HTML （25）    PDF（pc） （1215KB）（167）       Knowledge map    Save Objective To summarize the clinical features, diagnosis and treatment, regression and prognosis of 5 neonatal urea cycle disorders (UCDs) in order to improve the understanding of the disease. Methods The clinical characteristics, treatment and prognosis of 5 neonatal UCDs confirmed by gene sequencing admitted from July 2017 to July 2022 were retrospectively analyzed. Results The gestational age of the five neonates (4 boys and 1 girl) was (39.0±1.2) weeks, the birth weight was (3642.0±511.6) g, the age of onset was 2(1-5) days, and the initial blood ammonia level was (1386.8±398.4) μmol/L. The onset characteristics of the children were poor appetite (3 cases), hypothermia (2 cases), shortness of breath (2 cases) and vomiting (1 case). All the children had hypotonia, disturbance of consciousness and convulsion. The primary disease was ornithine transcarbamylase deficiency (OTCD) in 3 cases and carbamoyl phosphate synthase 1 deficiency (CPS1D) in 2 cases. Decreased citrulline and increased urinary orotate was found in children with OTCD, and there were three gene pathogenic variants, among which c.177delA and c.387-1G>T were new variants. In CPS1D children, citrulline was decreased, urinary orotate concentration was normal or decreased, and four variation loci were found by gene sequencing, among which c.548T>C and c.3G>C were new variants. All 5 neonates with UCDs were treated with diet control and medication followed by dialysis for rapid clearance of ammonia, and the blood ammonia level in 3 of them decreased to (164.0±47.1) μmol/L. However, due to the poor prognosis of the nervous system, 4 patients died and 1 patient survived. The surviving neonate underwent liver transplantation at the age of 1 year and was followed up until December 2022. The child had delayed language and motor development. Conclusions UCDs in newborns have a high mortality rate and a poor prognosis, and the clinical features are often unspecific. Early blood ammonia detection is the key to detect the disease, and genetic analysis can confirm the diagnosis. Early and effective intervention can save the children’s life and improve their neurological prognosis. Table and Figures | Reference | Related Articles | Metrics

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Advances in the gene therapy for Fanconi anemia XI Bixin, HU Qun, LIU Aiguo Journal of Clinical Pediatrics    2023, 41 (2): 156-160.   DOI: 10.12372/jcp.2023.21e1465 Abstract （333）   HTML （11）    PDF（pc） （1204KB）（367）       Knowledge map    Save Fanconi anemia is a rare monogenic disease with the hallmark of bone marrow failure. Although allogeneic hematopoietic stem cell transplantation constitutes the preferred therapy for bone marrow failure in Fanconi anemia patients, the increased incidence and mortality of transplant-related complications have seriously affected their quality of life. As medical science advances in recent 30 years, gene therapy may emerge as an innovative low-toxicity therapeutic option for this life-threatening disorder. In this paper, attention is focused on the advances in gene therapy for Fanconi anemia in children. Table and Figures | Reference | Related Articles | Metrics

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Clinical features and prognostic factors of SHH medulloblastoma in children GAO Wenchao, SUN Yanling, LI Miao, REN Siqi, DU Shuxu, WU Wanshui, SUN Liming Journal of Clinical Pediatrics    2022, 40 (12): 919-924.   DOI: 10.12372/jcp.2022.21e1607 Abstract （328）   HTML （7）    PDF（pc） （1387KB）（106）       Knowledge map    Save Objective To retrospectively analyze the clinical characteristics of sonic hedgehog (SHH) medulloblastoma (MB) in children, and to explore the prognostic factors. Methods The clinical data of SHH MB children from June 2015 to October 2019 were retrospectively analyzed. The overall survival rate and event-free survival rate were calculated by the Kaplan-Meier method. The survival rate between groups was compared by log-rank test. Cox proportional hazards regression model was used for multivariate analysis. Results A total of 99 children (62 boys and 37 girls) with SHH MB were enrolled. The median age was 6.0 (3.3-6.0) years, of which 75 children were ≥3 years old and 24 children were <3 years old. There were 66 cases of M0 stage and 33 cases of M+ stage. Total resection was performed in 72 children and near total resection in 27 children. The main pathological type was desmoplastic/nodular MB (DMB). Tumor origin sites were commoner in midline sites (fourth ventricle, posterior fossa, cerebellar vermis). SUFU germline variation was found in two children. The median follow-up time was 3.2 (2.2-4.1) years, the 3-year EFS rate was (61.0±5.0) %, the 3-year OS rate was (72.2±4.6) %, and 39 children (39.4%) had progression or recurrence. The 3-year OS rates of DMB and MB with extensive nodularity (MBEN) <3 years old are (80.0±10.3) % and (57.1±18.7) %, respectively. Among them, 12 patients with M0 stage, without MYCN amplification and SUFU germline variation only received chemotherapy without radiotherapy. Cox regression model analysis showed that M+ stage, TP53 mutation or MYCN, GLI2 amplification, and pathological type of large-cell/anaplastic was an independent risk factor for the prognosis of the disease (P<0.05). Conclusions The prognosis of SHH MB children is related to M stage, pathological type, TP53 mutation, MYCN or GLI2 amplification. Infants with pathological types of DMB and MBEN without the above risk factors and SUFU germline variation have a better prognosis, so radiotherapy is not necessary. Table and Figures | Reference | Related Articles | Metrics

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Phenotypic evolution of bronchopulmonary dysplasia in premature infants DING Yingxue Journal of Clinical Pediatrics    2022, 40 (6): 407-412.   DOI: 10.12372/jcp.2022.22e0360 Abstract （327）   HTML （14）    PDF（pc） （1173KB）（222）       Knowledge map    Save Bronchopulmonary dysplasia (BPD) is the commonest chronic lung disease in preterm infants, and is associated with increased infant mortality and respiratory incidence rate. With the progress of neonatal intensive care medicine, the phenotype of BPD has evolved from fibrocystic disease affecting late preterm infants to lung parenchyma damage and vascular growth disorder mainly affecting infants born 28 weeks ago. In this article, we evaluated the evolution of the definition, pathophysiology, imaging and clinical phenotypes of BPD in order to find new evidence-based prevention and management strategies, to improve the classification of disease phenotypes, to early identify the clinical characteristics of high-risk premature infants and improve their prognosis. Reference | Related Articles | Metrics

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Analysis using next generation sequencing in 97 children with unknown respiratory diseases WANG Xia, DAI Jihong, TIAN Daiyin, YING Linyan, FU Zhou, LI Ying Journal of Clinical Pediatrics    2022, 40 (8): 580-585.   DOI: 10.12372/jcp.2022.21e1533 Abstract （327）   HTML （31）    PDF（pc） （1396KB）（162）       Knowledge map    Save Objective To explore the application of next generation sequencing (NGS) in the diagnosis of intractable respiratory diseases in children. Methods A retrospective analysis was performed on the diagnosis of intractable diseases with respiratory symptoms as the main manifestations in the respiratory center of our hospital from 2016 to 2021, and the clinical effectiveness of NGS was further evaluated. Results A total of 97 children underwent NGS testing, all of which had respiratory symptoms as the first or main manifestation. The median age was 1 year and 11 months, and the male to female ratio was 1.4:1 (57/40). Using NGS testing, 31 cases of monogenic disease were diagnosed at a median age of 4 years, and the diagnosis rate was about 32.0%. Among them were 20 cases of primary ciliary dyskinesia. The results of gene detection showed that 18 cases had compound heterozygous mutation, including seven cases of HYDIN, three cases of CCNO, two cases of CCDC40, two cases of DNAH1, one case each of DNAAF3, DNAI2, DNAH11, RSPH4A, homozygous mutation at DNAI2 gene and of hemizygous deletion of PIH1D3 gene. There were four cases of cystic fibrosis, among them three cases had compound heterozygous mutation in CFTR gene and one case had a homozygous mutation of c. 4056G > C in CFTR gene. There were three cases of pulmonary surfactant metabolic disorder, all of them had heterozygous mutations in SFTPC gene. There were two cases of primary immunodeficiency disease, including one case of PI3K δ overactivation syndrome caused by PIK3CD gene mutation and one case of WHIM syndrome caused by CXCR4 gene mutation. There were two cases of neuromuscular diseases including one case of centronuclear myopathy caused by MTM1 gene mutation and one case of progressive spinal muscular atrophy caused by homozygous deletion of SMN1 gene. The clinical manifestations of 31 children with positive gene test included chronic wet cough (n=27), shortness of breath (n=10), recurrent nasal congestion (n=18), runny nose (n=18), external ear pus (n=6), malnutrition (n=11), visceral transposition (n=3) and clubbing finger (n=5). Chest CT revealed bronchiectasis in 14 cases, atelectasis in eight cases and pulmonary interstitial changes in eight cases. The 66 children with negative genetic test were mainly manifested by recurrent respiratory tract infection and chronic cough, with or without bronchiectasis, some children presented with unexplained shortness of breath and respiratory distress, with or without extensive interstitial changes in the lungs. Conclusion Monogenic disease in children with respiratory symptoms as the first or main manifestation has a high degree of clinical and genetic heterogeneity. The application of the next generation sequencing brings new ideas to its diagnosis and treatment and expands people's understanding of the disease spectrum. Table and Figures | Reference | Related Articles | Metrics

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Early diagnosis and precise intervention of neonatal hyperammonemia ZHANG Yongjun, ZHU Tianwen Journal of Clinical Pediatrics    2023, 41 (4): 241-246.   DOI: 10.12372/jcp.2023.23e0164 Abstract （320）   HTML （40）    PDF（pc） （1156KB）（337）       Knowledge map    Save Neonatal hyperammonemia (NHA) is a neonatal critical disease with high neonatal mortality and rapid progression. During the neonatal period, increased blood ammonia can be caused by a variety of genetic and non-genetic disorders with complex causes, such as urea cycle disorders, organic acidemia, fatty acid metabolism disorders, and acquired hyperammonemia due to other serious systemic diseases. The presenting clinical features are not specific. Early detection and identification of etiology and precise intervention through feeding management, amino-reducing drug and hemodialysis can improve the prognosis. Reference | Related Articles | Metrics

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Research progress and prospect of clinical application of basophils in allergic diseases ZHONG Wenwei, LI Jingyang, GENG Liting, ZHANG Jianhua Journal of Clinical Pediatrics    2022, 40 (8): 566-572.   DOI: 10.12372/jcp.2022.22e0131 Abstract （319）   HTML （45）    PDF（pc） （1348KB）（312）       Knowledge map    Save Th2 immune response is the most important immunological mechanism in the pathogenesis of allergic diseases. Basophil (Ba) plays the role of initiator, effector and regulator in allergic inflammation. In the initial stage of allergic inflammation, Ba may initiate Th2 immune response independently or coordinate with dendritic cells by its antigen presentation function. Ba also shows the immunological effect of enhancing memory Th2 and Th17 immune response, indicating that Ba may also play an important role in memory immune response. Clinical studies have found that Ba activation test has unique advantages in the diagnosis of allergic diseases, and has potential value as a biological marker in monitoring and evaluating the efficacy of specific immunotherapy and biological agent treatment. Table and Figures | Reference | Related Articles | Metrics

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Genetic classification, diagnosis, and treatment of hyperphenylalaninemia LIANG Lili Journal of Clinical Pediatrics    2023, 41 (2): 92-97.   DOI: 10.12372/jcp.2023.22e1525 Abstract （317）   HTML （12）    PDF（pc） （1346KB）（286）       Knowledge map    Save Hyperphenylalaninemia is a group of autosomal recessive amino acid metabolic disorders, caused by defects in phenylalanine hydroxylase and its coenzyme tetrahydrobiopterin. If left untreated, severe neurological damage will occur. Treatment is based on low-phenylalanine diet therapy and neurotransmitter drug supplementation. Newborn screening for hyperphenylalaninemia began in China in 1982, more and more patients are being diagnosed during the screening. The diagnosis of hyperphenylalaninemia has shifted from the diagnosis of clinical symptoms to biochemical and genetic diagnosis in asymptomatic period. The early differential diagnosis and proper treatment for patients with hyperphenylalaninemia has become a new challenge for clinicians. Therefore, the article focuses on the genetic background, diagnosis, differential diagnosis and treatment of hyperphenylalaninemia, to raise the awareness for the disease among clinicians. Table and Figures | Reference | Related Articles | Metrics

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The current management and early diagnosis of renal tubular diseases in children HUANG Wenyan, KANG Yulin Journal of Clinical Pediatrics    2022, 40 (12): 881-885.   DOI: 10.12372/jcp.2022.22e1435 Abstract （314）   HTML （19）    PDF（pc） （1325KB）（238）       Knowledge map    Save Renal tubule disease is a kind of disease caused by various primary and/or secondary factors, which leads to abnormal structure, function and cell metabolism of the renal tubule. To date, there is no consensus on the classification of renal tubular diseases. We preliminarily classify renal tubular diseases according to their course, causes, involved sites, types of substance transport disorder, and the unified name of human genome organization. A unified and standardized classification is helpful for clinical diagnosis and treatment of renal tubular diseases. Due to the diversity of its clinical manifestations in children, the lack of specific symptoms, the slow progress of the disease, and the limited laboratory diagnostic methods, the lack of understanding of such diseases, misdiagnosis and mistreatment occur frequently in clinic. Thus, early recognition of renal tubular diseases is crucial. The early diagnosis of renal tubular diseases depends on the detailed inquiry of medical history, careful observation of clinical symptoms and signs, and the data of relevant laboratory, imaging examinations and genetic analysis. In addition, multidisciplinary cooperation is valuable to improve the prognosis of renal tubular diseases. Reference | Related Articles | Metrics

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The antibiotic resistance and treatment strategies of Helicobacter pylori in children in Wuxi ZHOU Danli, WANG Yan, LING Jingjing, GU Lan, HAN Meiling, LIN Qiong Journal of Clinical Pediatrics    2022, 40 (12): 925-929.   DOI: 10.12372/jcp.2022.21e1407 Abstract （312）   HTML （9）    PDF（pc） （1378KB）（46）       Knowledge map    Save Objective To analyze the infection and drug resistance of Helicobacter pylori (Hp) in outpatients in Wuxi, Jiangsu province, and to explore the strategy of rational use of antibiotics. Methods The clinical data of children who underwent gastroscopy in gastroenterology outpatient department due to upper gastrointestinal symptoms from December 2018 to July 2021 were retrospectively analyzed. Results Gastric antral mucosa samples were collected from 716 children, including 392 boys and 324 girls. The median age was 11.0 (9.0-13.0) years, and there were 454 children ≤12 years old and 262 children >12 years old. Hp culture was positive in 260 children (36.3%), including 132 boys and 128 girls. There were 148 children ≤12 years old and 112 children >12 years old. The positive rate of Hp in children >12 years old (42.7%) was significantly higher than that in children ≤12 years old (32.6%), and the difference was statistically significant (P<0.05). The results of drug susceptibility test of 260 Hp strains showed that 10.4% (27/260) of the strains were sensitive to all six antimicrobial agents. The drug resistance rates of metronidazole, clarithromycin and leofloxacin were 75.4% (196/260), 37.7% (98/260) and 20.8% (54/260), respectively. No strains resistant to furazolidone, amoxicillin and tetracycline were found. Seventy-six patients were resistant to two antimicrobial agents, including 45 patients with dual resistance to clarithromycin and metronidazole, 11 to clarithromycin and levofloxacin, and 20 to metronidazole and levofloxacin. Nineteen children were resistant to clarithromycin, metronidazole and levofloxacin. Conclusions The positive rate of Hp culture in children of Wuxi region increased significantly with age. The drug resistance rate of Hp to metronidazole is very high. Metronidazole should be avoided in empirical treatment, and tetracycline and furazolidone can be considered to replace metronidazole. Table and Figures | Reference | Related Articles | Metrics

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Analysis of the clinical characteristics of epilepsy associated with CHD2 gene variation FENG Fan, CHEN Fang, SUN Suzhen, LI Xin, LIU Xuefang, ZHAO Tong Journal of Clinical Pediatrics    2023, 41 (1): 48-53.   DOI: 10.12372/jcp.2023.22e0007 Abstract （312）   HTML （6）    PDF（pc） （4324KB）（124）       Knowledge map    Save Objective To analyze the clinical features of epilepsy in children with CHD2 gene variation. Methods The clinical characteristics and treatment efficacy of 7 children with epilepsy related to CHD2 gene variation were analyzed and summarized. Results The median onset age of seizure in 7 children was 3 years and 2 months old. There were two or more seizure types during the course of the disease in 5 children, and the main seizure was generalized tonic-clonic seizure. Seven children had varying degrees of motor, intellectual and language retardation, and one had a tendency to autism. Abnormal discharge was detected by interictal electroencephalogram in 5 children, and clinical episodes were observed in 4 children. There were no specific changes in skull MRI. More than 2 antiepileptic drugs were needed in 4 children, and the number of seizures decreased after treatment. One patient was not sensitive to antiepileptic drugs and was finally treated with ketogenic diet. At present, the child did not have seizures. The age of the last follow-up was 2 to 7 years old, and seizures were controlled for more than half a year in 3 children. Valproate and levetiracetam are effective drugs for the treatment of CHD2 variation-related epilepsy.Conclusions Children with epilepsy related to CHD2 gene variation have early onset age and various seizure types. Most of the children have refractory epilepsy and poor prognosis, so early intervention should be given. Table and Figures | Reference | Related Articles | Metrics

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Clinical characteristics of bronchopulmonary dysplasia in preterm infants with gestational age <32 weeks XU Ruzheng, JIANG Xu, SUN Bin Journal of Clinical Pediatrics    2022, 40 (6): 420-424.   DOI: 10.12372/jcp.2022.21e0945 Abstract （310）   HTML （14）    PDF（pc） （1169KB）（155）       Knowledge map    Save Objective To analyze the epidemiological characteristics of children with bronchopulmonary dysplasia (BPD) for 6 years and clinical characteristics changes of BPD in different periods. Methods Clinical data of children with confirmed BPD after birth and during the mother's pregnancy from January 2015 to December 2020 were retrospectively collected. The children were grouped according to the gestational age and birth weight, and the trend of BPD incidence in each group was compared. According to the time of diagnosis, the children were divided into group 2015-2017 and group 2018-2020 and the clinical characteristics of the two groups were compared. Results From 2015 to 2020, a total of 1237 premature infants with gestational age <32 weeks were admitted to our hospital, including 155 infants with BPD (12.5%). There was significant difference in the incidence of BPD among different gestational age groups (P<0.001). The incidence of BPD among premature infants ≤26 weeks was the highest, and the incidence of BPD decreased with the increase of gestational age. From 2015 to 2020, the gestational age distribution of children with BPD showed statistically significant differences among different years (P=0.001). In 2015 and 2016, the proportion of patients with gestational age of 28 to 32 weeks was higher. The proportion of patients with gestational age of 26-29+6 weeks from 2017 to 2020 was higher. The incidence of BPD among different birth weight groups was significantly different (P<0.001). The incidence of BPD among premature infants ≤750g was the highest, and the incidence of BPD decreased with the increase of birth weight. From 2015 to 2020, there were statistically significant differences in the birth weight distribution of BPD children in different years (P<0.05). In 2015 and 2016, the proportion of patients with birth weight of 1001-1500g was higher. In 2017 and 2018, the proportion of patients with birth weight of 751-1500 g was higher. In 2019 and 2020, the proportion of patient with birth weight of 751-1250g was higher. Compared with group 2015-2017, BPD children in group 2018-2020 had lower gestational age, lower birth weight and NCIS score, lower proportion of physical body weight decline ≥10%, higher proportion of maternal smoking or exposure to polluted air, higher proportion of respiratory failure and anemia, longer time to start enteral nutrition and to reach complete enteral nutrition. The difference between the two groups was statistically significant (P<0.05). Conclusions BPD happens in early gestational age and cause low birth weight of children. For children with maternal exposure to smoking or air pollution, respiratory failure and anemia after birth, BPD should be considered in clinical work. Table and Figures | Reference | Related Articles | Metrics

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Progressive myoclonic epilepsy caused by SEMA6B gene variations: a case report ZHAO Jinhua, TANG Jihong, HUANG Jing, XIAO Xiao, ZHANG Bingbing, XING Yujiao, SHI Xiaoyan Journal of Clinical Pediatrics    2022, 40 (9): 705-709.   DOI: 10.12372/jcp.2022.21e1029 Abstract （305）   HTML （20）    PDF（pc） （2440KB）（161）       Knowledge map    Save A 15-year-old female patient was admitted to the hospital due to developmental retardation for 14 years and significant motor and cognitive regression for more than 1 year. The clinical features of this patient were myoclonus, intention tremor, ataxia, tendon hyperreflexia, hypertonia, dysarthria, speech regression, intellectual disability and multifocal seizures. Electroencephalogram showed typical epileptic discharge and the epilepsy was refractory. The patient had developmental retardation since childhood. Walking gait instability gradually aggravated, and eventually developed into walking difficulties with tremor of limbs. In addition of seizures, language and cognitive regression of the patient was evident. Genetic testing found a variation of SEMA6B gene in the child, which was determined as a pathogenic variation combined with genetic characteristics and clinical phenotype, and the child was diagnosed as progressive myoclonic epilepsy (PME). Treatment of PME is generally anti-seizure, as well as palliative support and rehabilitation measures. Most patients have poor prognosis. Genetic testing contributes to the diagnosis and treatment of patients with refractory epilepsy. SEMA6B gene variation can lead to PME phenotype. The gene variation C.2149 (exon17) C>T has not been reported before, which expands the gene variation spectrum of PME. Table and Figures | Reference | Related Articles | Metrics

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A multicenter survey and clinical analysis of neonatal hyperammonemia Shenzhen Neonatal Data Network Journal of Clinical Pediatrics    2023, 41 (4): 252-258.   DOI: 10.12372/jcp.2023.22e1736 Abstract （305）   HTML （24）    PDF（pc） （1255KB）（148）       Knowledge map    Save Objective To investigate the incidence, etiological classification, clinical features and prognosis of neonatal hyperammonemia through a retrospective multi-center status survey. Methods Neonatal patients with blood ammonia levels more than 100 μmol/L who were treated in 28 participating units between January 2017 and November 2022 made up the study population. The incidence, etiological classification, clinical traits, genetic phenotype, and prognostic follow-up of neonates with confirmed hyperammonemia were analyzed using descriptive study methodologies. Results During the observation period, the total number of deliveries in 28 units was 708421, and 73 newborns met the diagnostic criteria of neonatal hyperammonemia, including 44 boys and 29 girls. The etiological classification included congenital hyperammonemia (24 cases, 32.88%), transient hyperammonemia (11 cases, 15.07%), secondary hyperammonemia (12 cases, 16.44%), and unexplained hyperammonemia (26 cases, 35.61%). The main clinical manifestations were poor response, shortness of breath, feeding difficulties, convulsions and impaired consciousness. The main abnormal laboratory tests were metabolic acidosis, increased blood lactate, hypoglycemia, electrolyte disorders, abnormal blood and/or urine amino acids. Genetic tests were performed in 13 patients, and abnormalities were found in 11 of them. In addition to conventional symptomatic supportive treatment, arginine intravenous drip (21 cases), carnitine supplementation (8 cases), blood purification (9 cases) and peritoneal dialysis (3 cases) were mainly used. The prognosis for the 24 cases of congenital hereditary hyperammonemia was 10 deaths, 6 treatment discontinuations, and 8 discharges. Among the 12 children with secondary hyperammonemia, 1 died, 3 gave up treatment, 1 had an unknown prognosis, and 7 were cured and discharged from hospital. All 11 cases of temporary hyperammonemia were cured or improved and discharged from hospital. Among 26 cases of unknown hyperammonemia, 17 died, 4 gave up treatment, 3 had unknown prognosis, and 2 were discharged from hospital after improvement. Conclusions Neonatal hyperammonemia is uncommon, but it progresses swiftly and has a high risk of mortality, particularly in cases of congenital genetic hyperammonemia and unexplained hyperammonemia. Raising doctors' awareness of the condition and promoting early detection and treatment can reduce mortality and serious consequences. Moreover, setting up screening and registration procedures for newborn hyperammonemia as well as improving prenatal consultation are helpful for clinical outcomes. Table and Figures | Reference | Related Articles | Metrics