Table of Content

15 February 2025 Volume 43 Issue 2

  

Standard·Protocol·Guideline

Multidisciplinary expert consensus on the prevention, screening, diagnosis, counseling and intervention of neural tube defects

Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association, Pediatric Genetics Group of the Medical Genetics Physicians Branch of the Chinese Medical Doctor Association, Neurogenetic and Developmental Disorders Section of the China Chapter of the International Neurorestoration Society

Journal of Clinical Pediatrics. 2025, 43(2):  81-92.  doi:10.12372/jcp.2025.24e0672

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Neural tube defects (NTDs) are a class of birth defects that can lead to death or disability. To further guide the prevention, screening, diagnosis, and management of NTDs, the Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association and other organizations convened a panel of multidisciplinary experts for discussion. This panel referenced the latest domestic and international research progress and consensus guidelines, formulating the following expert consensus.

Original Article

Clinical phenotype and genotype analysis of 24 epileptic children with KCNQ2 gene variation

WANG Lihui, CUI Liping, YANG Huafang, LIU Lan, TANG Xiaona, ZHAO Qing, WANG Xin, LI Baoguang

Journal of Clinical Pediatrics. 2025, 43(2):  93-98.  doi:10.12372/jcp.2025.23e1140

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Objective To investigate the clinical and genetic characteristics of children with epilepsy caused by variations of the KCNQ2 gene (OMIM #602235). Methods The clinical data of 24 children with KCNQ2 gene variants (NM_172107) detected by whole-exome sequencing (WES) from October 2018 to November 2022 were analyzed, and the genotypic characteristics and treatment were analyzed. Results A total of 24 children (14 boys and 10 girls) with epilepsy caused by KCNQ2 gene variations were included. The age of the first seizure in these children ranged from 17 hours after birth to 5 years old. Among them, 16 children (66.7%) were younger than 6 months. According to the clinical prognosis, there were 1 case of benign familial neonatal epilepsy (BFNE), 6 cases of benign familial infantile epilepsy (BFIE), 4 cases of self-limited epilepsy syndrome that could not be classified, and 13 cases of KCNQ2-related developmental and epileptic encephalopathy (KCNQ2-DEE). The main genetic variation was missense mutation (62.5%), and 7 new KCNQ2 mutation sites were found. Among them, c.1411C>T was evaluated as pathogenic, c.602G>C, c.1031G>A, c.2159_2173del (p.720_725delinsR) was evaluated as likely pathogenic. The median follow-up time of the 24 patients was 40 months. 13 patients had varying degrees of developmental delay in KCNQ2-DEE, and the remaining 11 patients had good overall prognosis and normal cognitive development. Conclusions The age of seizures associated with KCNQ2 variation is mainly distributed in the neonatal period and early infancy. The prognosis of KCNQ2-DEE is poor. It is recommended that genetic testing should be performed as early as possible for the diagnosis of unexplained seizures in infancy.

Analysis of children with severe pertussis complicated with Pneumocystis jirovecii pneumonia

GUO Fang, KANG Lei, WU Xiaoyuan, JIA Yanhong, DI Yanan, JIA Li, XU Meixian

Journal of Clinical Pediatrics. 2025, 43(2):  99-104.  doi:10.12372/jcp.2025.24e0226

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Objective To raise the awareness of Pneumocystis jirovecii pneumonia (PCP) in children complicated with severe pertussis, and to enable early diagnosis for improved prognosis. Methods The clinical data of children diagnosed with severe pertussis complicated by PCP from January 1, 2020 to December 31, 2023 were retrospectively analyzed. Results Five cases were enrolled, with one male and four females. The median age was 3.0(2.5-10.0) months, and the median hospital stay was 17.0(7.5-23.5) days, with three deaths recorded. All cases experienced apnea and hypoxemia, with 3 cases presented acute respiratory distress syndrome (ARDS), and 3 cases developed pulmonary hypertension and pertussis encephalopathy. The peak of leucocyte count were 43.8(25.2-87.8)×10⁹/L, which decreased to a post-treatment median of 8.5(5.0-36.5)×10⁹/L, and the median LDH was 942.0(466.5-1837.0) U/L. All 5 cases were treated with azithromycin before diagnosis of PCP, and co-trimoxazole combined with echinocandin were administered additionally for PCP, while 2 survivors were treated within 5 days. Conclusion PCP can occur in severe pertussis children without immunodeficiency, and there is a high risk of death when severe pertussis is complicated by PCP. When the routine treatment for severe pertussis in children has poor efficacy, it is necessary to be alert for Pneumocystis jirovecii infection. Early combined use of co-trimoxazole with echinocandin may improve prognosis.

Clinical analysis of burosumab in the treatment of X-linked hypophosphatemic rickets

YANG Fan, LI Juan, ZHANG Wanglin, CHANG Guoying, LI Xin, LI Yunyun, SHE Jiaxiao, LIN Kana, LI Hao, WANG Xiumin

Journal of Clinical Pediatrics. 2025, 43(2):  105-111.  doi:10.12372/jcp.2025.24e0813

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Objective To summarize the efficacy and safety of burosumab in the treatment of X-linked hypophosphatemic rickets (XLH). Methods The clinical data of a child hospitalized in the Department of Endocrinology and Metabolism in August 2022 who was treated with burosumab for XLH due to PHEX gene variation were retrospectively analyzed, and the relevant literature was reviewed. Results A 5 years and 11 months old boy was treated for "malformation of both lower limbs for 3 years with bone pain for 2 months". The blood phosphorus value at admission was 0.82 mmol/L. The X-ray examination of the bones showed cup-shaped and brush-like changes at the epiphysis of the long bones, and the changes in all the bones were consistent with the symptoms of rickets. The mother of the child had symptoms of short stature, malformation of both lower limbs with bone pain. The genetic testing found a variation of c.1282C > T, p.Gln428* in the PHEX gene in the child, which came from his mother. After treatment with burosumab, blood phosphorus value was increased, alkaline phosphatase and parathyroid hormone levels were decreased, growth rate was increased, bone pain was improved, activity tolerance was improved, bone deformities were significantly improved, and no drug-related adverse reactions occurred. Conclusions Burosumab can be used for the treatment of children with XLH due to PHEX gene variation, and it can improve several indicators and has good safety.

Examination of peripheral blood MDSCs quantitative variations and biological properties in infants with necrotizing enterocolitis: utilizing GEO database insights

LE Huijuan, WU Jin

Journal of Clinical Pediatrics. 2025, 43(2):  112-119.  doi:10.12372/jcp.2025.24e0366

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Objective To investigate the correlation between peripheral blood myeloid-derived suppressor cells (MDSCs) levels and the severity of necrotizing enterocolitis (NEC), and the biological characteristics of MDSCs in NEC infants. Methods The single-cell sequencing dataset of peripheral blood from NEC patients was downloaded from the GEO database and analysed by quality control, batch correction, clustering dimensionality reduction and cell type annotation. The number and proportion of MDSCs in the peripheral blood of NEC patients at different disease stages were calculated. Subsequently, MDSCs subsets were extracted, differentially expressed genes and enrichment pathways were analysed, and the expression of MDSC immunosuppressive function, apoptosis and chemotaxis related molecules were compared. Results As the severity of NEC increased, the corresponding number and proportion of MDSCs gradually decreased. Compared with stage II NEC patients, upregulated genes in MDSCs of stage III NEC patients were enriched in multiple pathways, such as positive regulation of leukocyte activation and negative regulation of locomotion. And there was no significant difference in immunosuppressive function and apoptotic pathway activation between MDSCs from stage II and III NEC patients, whereas the expression of chemokine receptor CXCR1 was significantly decreased in MDSCs from stage III NEC patients. Conclusion The number of MDSCs in the peripheral blood of NEC patients was inversely correlated with the severity of NEC. And the reduction of MDSCs in stage III NEC patients could be attributed to the downregulated expression of CXCR1.

An analysis of predictive markers for surgical treatment of ulcerative colitis in children

HUANG Liufang, WU Bo, WANG Ying

Journal of Clinical Pediatrics. 2025, 43(2):  120-127.  doi:10.12372/jcp.2025.24e0051

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Objective To analyze the predictive value of ferroptosis-related genes for the surgical treatment risk of children with ulcerative colitis (UC). Methods A total of 331 children with UC were selected from the GSE150961 dataset in the GEO database as the research subject. The rectal biopsy specimens were obtained from UC children during diagnostic colonoscopy, and the children followed up for 1 year after diagnosis. Among them, 21 children progressed to colectomy treatment and served as the surgical group, while 310 children served as the non-surgical group. The differentially expressed ferroptosis-related genes in the rectal tissues of the two groups of children were screened out, and their predictive values for the risk of surgical treatment were investigated. Their correlations with immune cell infiltration, inflammatory factors, and genes related to intestinal epithelial barrier function were examined. Results The non-surgical group consisted of 310 cases, including 158 males and 152 females, with an average age of 12.9±3.2 years; the surgical group consisted of 21 cases, including 12 males and 9 females, with an average age of 13.6±2.7 years. Two genes, solute carrier family 7 member 5 (SLC7A5) and Bcl2/adenovirus E1B interacting protein 3 (BNIP3), were screened out as differentially expressed ferroptosis-related genes in the rectal tissues of the two groups of children. Compared with the non-surgical group, the expression levels of SLC7A5 and BNIP3 in the rectal tissues of the surgical group were significantly increased (P<0.001). The results of multivariate Logistic regression analysis showed that SLC7A5 and BNIP3 were risk factors for the progression of UC children to require colectomy treatment (P<0.01). The results of the receiver operating characteristic (ROC) curve showed that the areas under the curve (AUC) of SLC7A5 and BNIP3 in predicting colectomy treatment of children with UC were 0.938 and 0.867, respectively, the AUC of the combined prediction of SLC7A5 and BNIP3 was 0.949 (P<0.05). The results of correlation analysis showed that the levels of SLC7A5 and BNIP3 were positively correlated with the proportions of memory B cells, macrophage M0, and neutrophils (r=0.14-0.47, P<0.05), and negatively correlated with the proportions of naive B cells, resting CD4⁺ memory T cells, regulatory T cells, and macrophage M2 (r=-0.13 to -0.35, P<0.05), and were significantly positively correlated with the expression levels of inflammatory factors CXCL1, CXCL8, TNF, IL1B, TLR2, NLRP3, and IL23A (r=0.12-0.53, P<0.05), and negatively correlated with the levels of genes related to intestinal epithelial barrier function OCLN, TJP1, TJP2, DSG2, CDH1, and MARVELD2 (r=-0.13 to -0.42, P<0.05). Conclusions The expression levels of ferroptosis-related genes SLC7A5 and BNIP3 were increased in the rectal tissues obtained at diagnosis of children with UC requiring colectomy treatment, and they were both risk factors and predictors for colectomy treatment of children with UC.

Clinical analysis of 153 neonatal enterovirus infections and antibiotic management improvement study

HE Ying, LIU Zhiyong, YANG Hansong, CAI Yali, XU Jinglin, CHEN Dongmei

Journal of Clinical Pediatrics. 2025, 43(2):  128-134.  doi:10.12372/jcp.2025.24e0760

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Objective To analyze the clinical features of neonatal enterovirus infection and to explore the effect of antibiotic management improvement on reducing the use of antibiotics in children with enterovirus infection. Methods A retrospective analysis was performed on the clinical data of neonates diagnosed with enterovirus infection who were admitted to the Neonatal Department between January 2019 and December 2023. The subjects were categorized into a general infection group and a severe infection group based on the presence or absence of organ failure, and comparative analyses of clinical characteristics between the two groups were conducted. Results A total of 153 neonates with enterovirus infection were included in the study, with the peak incidence occurring from May to July. There were 94 boys and 59 girls. The gestational age was 39.3 (38.1-40.3) weeks, and the birth weight was 3200.0 (2950.0-3450.0) g. There were 35 early neonates, and the age of onset was 15.0 (8.0-23.0) days. Among all the patients, 146 had the initial symptoms of fever, 152 had fever during the course of the disease, and the course of fever was 1.8 (1.5-2.4) days. The median white blood cell count at admission was 5.0 (3.5-7.2)×10⁹/L and the median C-reactive protein level was 2.4 (0.5-7.3) mg/L. The median procalcitonin level was 0.2 (0.1-0.3) ng/mL. All 146 patients in the general infection group were discharged after improvement. Among the 7 patients with severe infection, 4 were complicated with hemorrhagic hepatitis syndrome and 2 died; 3 patients were complicated with myocarditis and 2 died. Compared with the general infection group, the infants in the severe infection group had a lower gestational age, a higher proportion of poor appetite and poor reaction during the course of the disease, lower hemoglobin and platelet counts, higher levels of lactic acid, aspartate aminotransferase, alanine aminotransferase, creatine kinase, and creatine kinase MB isoenzyme, with statistically significant differences (P<0.05). A total of 9 serotypes were detected in PCR positive samples of enterovirus, among which Coxsackie virus B3, Echovirus 12 and Echovirus 30 were the most common, accounting for 62.7%. After the implementation of antibiotic management quality improvement, the utilization rate of antibiotics was lower in neonates with enterovirus infection, and the duration of antibiotic use and hospital stay were shorter, and the differences were statistically significant (P<0.05). Conclusions The neonatal enterovirus infection is mainly mild, but the mortality of severe infection is high. There are some differences in the laboratory results between mild and severe patients. Enterovirus PCR, sequencing typing and antibiotic management improvement measures are helpful for reasonable diagnosis and treatment.

Clinical Report

Bronchial dieulafoy's disease in children: a case report and review of literature

LIN Lihua, ZHANG Ning, CHEN Qihong, CHEN Lili, CHEN Lixian, YANG Yungang

Journal of Clinical Pediatrics. 2025, 43(2):  135-140.  doi:10.12372/jcp.2025.24e0996

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Objective To summarize the clinical diagnosis and treatment process of Dieulafoy's disease in children, and explore the clinical characteristics and treatment options of the disease. Methods A retrospective analysis was conducted on the clinical data of a child with bronchial Dieulafoy disease, and relevant literature reports were summarized. Results The patient was an 11-year-old female with acute onset, presenting with cough and hemoptysis, without extrapulmonary symptoms. Bronchoscopy showed a smooth mucosal protrusion at the opening of the right middle and lower lobes, and bronchial artery embolization was considered after bronchial angiography. There was no recurrence of bleeding after bronchial artery embolization treatment. A total of 14 case reports were retrieved, including 17 children, with age of onset ranging from 8 months to 18 years, with a predominance in males. All cases presented with hemoptysis, all the lesions occurred in the right lung. Among the 16 children treated with bronchial artery embolization and/or lobectomy, there were no recurrences, except for 1 child who had hemoptysis again after two bronchial artery embolizations and right upper lobe resection, but did not have a recurrence within 1 year of conservative follow-up. Conclusion Bronchial Dieulafoy disease in childhood is rare. For children with unexplained hemoptysis, nodular elevations seen on bronchoscopy need to be carefully differentiated to avoid blind biopsy. Bronchial artery angiography plays an important role in diagnosing this disease. Bronchial artery embolization is the main treatment for children with bronchial Dieulafoy disease, and if the hemoptysis persists, a lobectomy of the bronchus and lung may be performed.

Dextromethorphan in the treatment of acute encephalopathy induced by methotrexate: a case report

LUO Wentao, CHEN Jihui, ZHANG Xin, YU Juanjuan

Journal of Clinical Pediatrics. 2025, 43(2):  141-146.  doi:10.12372/jcp.2025.24e0546

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Objective To improve the understanding of methotrexate-induced acute encephalopathy and explore the efficacy and safety of dextromethorphan in the treatment of methotrexate-induced central neurotoxicity. Methods A retrospective analysis was performed on a patient in our hospital with acute encephalopathy caused by high-dose intravenous methotrexate combined with intrathecal methotrexate. Additionally, the published literature was reviewed to evaluate the potential efficacy and safety of dextromethorphan. Results The child was diagnosed with stage IV Burkitt lymphoma and was treated with chemotherapy in the China Net Childhood Lymphoma-mature B-cell lymphoma 2017 (CNCL-B-NHL-2017) C group. On the day following the initial administration of methotrexate, the patient exhibited clinical symptoms, including headache and visual impairment, and multiple patchy T2WI hypersignal images in the bilateral occipital cortex and bilateral cerebellar hemispheres were observed on head MRI. After oral administration of dextromethorphan, there was a gradual recovery of binocular vision and a reduction in the clinical symptoms. Conclusion In the case of acute encephalopathy induced by methotrexate, early treatment with dextromethorphan may have a therapeutic effect on severe neurotoxicity induced by methotrexate.

Academic Viewpoint

Some personal advices on belimumab treatment in childhood lupus nephritis

ZHANG Hongwen

Journal of Clinical Pediatrics. 2025, 43(2):  147-149.  doi:10.12372/jcp.2025.24e0805

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Systemic lupus erythematosus (SLE) is one of the most common systemic autoimmune diseases in children. The involvement of the kidneys in systemic lupus erythematosus (SLE) is referred to as lupus nephritis (LN), which serves as a critical factor influencing the prognosis of SLE. Belimumab is a recombinant human IgG1λ monoclonal antibody targeting B-lymphocyte stimulator, which inhibits B cell function by promoting B cell apoptosis. Belimumab can improve the response index and disease activity score of SLE, and delay the progression of LN. As a clinical pediatric nephrologist, the author explores some personal advices on the treatment of LN in children with Belimumab.

Pediatric Grand Rounds

Diagnosis, treatment, and reflection on pediatric systemic lupus erythematosus complicated by thrombotic microangiopathy

NI Jiajia, ZHU Yaju, JIN Jin, LI Jiaoyu, GUO Guimei

Journal of Clinical Pediatrics. 2025, 43(2):  150-156.  doi:10.12372/jcp.2025.24e1397

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A 12-year-old female SLE patient with lupus nephritis (class Ⅳ) and TMA was admitted to our hospital. After treatments including blood purification, methylprednisolone and CTX pulse therapy, even belimumab infusion, she still exhibited renal dysfunction and abnormal blood tests including decreased levels in platelet count, hemoglobin and fragmented red blood cells. Further tests showed normal activity of the von Willebrand factor-cleaving protease, negative antiphospholipid antibodies, and significantly elevated soluble c5-9 levels. After initiating treatment with eculizumab, the patient's condition improved. The patient remained stable during a three-month follow-up. This case provides clinicians with insights into the treatment of SLE complicated by TMA. Early identification of complement involvement and prompt initiation of eculizumab treatment can significantly improve the patient's long-term prognosis.

Literature Review

The effect of vegetarian diet on children and adolescents

ZHANG Shuo, ZHAO Xuemin, SHEN Xiuhua

Journal of Clinical Pediatrics. 2025, 43(2):  157-162.  doi:10.12372/jcp.2025.23e1184

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Vegetarian diets have become increasingly popular due to their perceived health benefits, with the majority of research focusing on the nutritional status and disease implications in adults. However, less attention has been paid to children and adolescents with plant-based food pattern. This review has systematically searched 24 relevant researches on vegetarian children and adolescents up to August 2023 and summarized the overall nutritional status, including vitamin B₁₂, vitamin D, calcium and iron. Additionally, it has demonstrated the impact of vegetarianism on growth and its association with diseases of vegetarian children and adolescents. Further, more studies are warranted to enhance health workers’ understanding about healthy vegetarian patterns and provide scientific evidence to guide children and adolescents to have a balanced vegetarian diet, and potentially inspire new approaches to dietary therapy for metabolic diseases.