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Clinical analysis of two cases with β-thalassemia complicated with α-globin gene triplication REN Zhenmin, HUANG Lilan, LIU Sixi, et al Journal of Clinical Pediatrics    2021, 39 (5): 338-.   DOI: 10.3969/j.issn.1000-3606.2021.05.004 Abstract （4205）      PDF（pc） （1226KB）（955）       Knowledge map    Save Objective To investigate the clinical diagnosis of thalassemia intermediate caused by β-thalassemia with α-globin gene triplication. Methods The clinical manifestations of two β-thalassemia heterozygotes were retrospectively analyzed, and the results of β-globin gene sequencing and α-globin gene triplication detection in peripheral blood were also analyzed. Results Case one is a 4 years old girl, and the routine thalassemia gene detection revealed that she was a βCD 41 - 42 heterozygote. Case two was a 13 years old boy, he was a βCD 17 heterozygote detected by routine thalassemia gene sequencing. The clinical manifestations of both cases were moderate to severe anemia with hepatosplenomegaly. No rare mutation was found in β-globin by sequencing. Triplication αααanti4 . 2 fragment was found in case one by Gap-PCR using specific primers. The αααanti3 . 7 fragment was positive in case two by qPCR relative quantification. Conclusion When the result of routine detection indicated beta heterozygote, but with moderate to severe anemia, if there is no rare mutation found by sequencing, the existence of α-globin gene triplication should be considered. Related Articles | Metrics

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Clinical features and prognosis of acute myeloid leukemia with TLS/ERG positive in children HU Guanhua, LU Aidong, JIA Yueping, et al Journal of Clinical Pediatrics    2020, 38 (12): 930-.   DOI: 10.3969/j.issn.1000-3606.2020.12.012 Abstract （2495）      PDF（pc） （1381KB）（1678）       Knowledge map    Save Objective To explore the clinical features and prognosis of acute myeloid leukemia (AML) with positive TLS/ERG gene in children. Methods The clinical data of TLS/ERG gene positive AML in 6 children admitted from June 2008 to December 2018 were retrospectively analyzed, and the prognosis data of 62 similar cases of children reported in domestic and foreign literature were summarized and analyzed. Results Six AML children with positive TLS/ERG gene was 1 . 3 % of the AML children from 0 to 18 years admitted in the same period. They were 4 boys and 2 girls with a median age of 9 . 1 years ( 4 . 0 - 14 . 0 years). One case was complicated with central nervous system (CNS) leukemia at the onset. In addition to expressed myeloid markers CD 117 , CD 13 , CD 33 , and CD 34 , immunophenotypic expression of CD 56 was found in 4 ( 66 . 7 %) children. There was no remission after induction chemotherapy in 3 children. Bone marrow recurrence occurred in 3 of 5 children receiving allogeneic hematopoietic stem cell transplantation, and the median recurrence time was 11 . 6 months ( 3 . 0 - 22 . 0 months) after transplantation. After transplantation, one patient relapsed in the form of CNS leukemia, but the bone marrow was in sustained remission. Bone marrow had the sustained remission in 1 case. By summarizing the prognostic data of children with TLS/ERG positive AML reported in the literature, it was found that all patients in the chemotherapy group experienced recurrence, and the recurrence rate in the transplantation group was 69 . 2 %. One of the patients had sustained remission and long-term survival after a second transplant following recurrence. Conclusions The incidence of TLS/ERG positive AML is extremely low, most of its immunophenotypes are associated with CD 56 expression, and the overall prognosis is poor. Hematopoietic stem cell transplantation can improve the prognosis, which is still the recommended treatment for the first remission period, but the recurrence rate after transplantation is still high. It is needed to improve treatment methods and find new treatment options. Related Articles | Metrics

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Analysis of clinical and pedigree genetics in two cases with neurodegeneration with brain iron accumulation 5　 　ZHAO Min, FENG Ying, CHEN Yuxia, LIU Ling, HUANG Qinrong, XIAO Nong, JIANG Wei    2018, 36 (11): 820-.   DOI: 10.3969/j.issn.1000-3606.2018.11.004 Abstract （2047）      PDF（pc） （2079KB）（2882）       Knowledge map    Save Objective　To investigate the clinical characteristics and pedigree genetics of  neurodegeneration with brain iron accumulation 5. Methods　Clinical features and imaging findings of two patients with neurodegeneration with brain iron accumulation 5 were analyzed, and whole-exome sequencing was used to identify WDR45 gene mutations. Results　A ten month old male infant and a three-year-old female child had history of comprehensive development retardation, the boy had a history of suspected seizures, magnetic resonance imaging (MRI) showed progressive brain atrophy; and the girl had a history of epilepsy, cranial MRI showed slightly hyperintense on T2-weighted images and T2 Flair in the globus pallidus. Whole-exome sequencing identified a novel frameshift mutation c.276-c277insC in exon 6 of WDR45 in the boy  and a reported mutation c.19C> Tin in the girl, which were not found in both parents. Conclusion  The WDR45 gene sequencing combined with medical history and cranial MRI can be used to diagnose neurodegeneration with brain iron accumulation 5 . Related Articles | Metrics

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Clinical and genetic analysis of MED13L syndrome in 2 cases ZHANG Yonggang, ZHOU Min, ZHANG Lifen, et al Journal of Clinical Pediatrics    2020, 38 (12): 945-.   DOI: 10.3969/j.issn.1000-3606.2020.12.015 Abstract （1953）      PDF（pc） （1369KB）（368）       Knowledge map    Save Objective To explore the clinical and genetic characteristics of MED 13 L syndrome caused by the mutation of MED 13L gene. Method The clinical data of MED 13 L syndrome in 2 children were retrospectively analyzed. Peripheral blood samples were collected from the children and their parents for gene chip and high-throughput sequencing analysis. The chromosome microdeletions/microduplications were verified by RT-PCR, and gene variations were verified by Sanger sequencing. Results The two patients were boys, aged 2 years 6 months and 4 years 3 months, respectively. Both had special facial features, including oblique head deformity, eyelid ptosis, wide eye distance, flat bridge of nose and sinking corners of mouth. Both had language retardation, motor development retardation, low muscle tension, moderate and mild mental retardation. Case 1 also had ventricular septal defect, and case 2 had polydactyly, autism and dysplasia of corpus callosum, etc. Gene chip analysis results showed that case 1 had a 1 . 42 MB deletion in 12 q 24 . 2 region, and RT-PCR showed no abnormality in the same region of her parents. High throughput sequencing showed that the MED13L gene of in case 2 had heterozygous variation of c.580g > t (p.e 194 x), which had not been reported. Sanger verified that neither parent was abnormal. Conclusion MED 13 L syndrome is characterized by special facial features, retardation in language and, motor, and mental retardation., Sand some MED 13 L syndrome is associated with congenital heart disease, bone abnormalities and behavioral abnormalities. There was a MED 13 L gene abnormality exists and . Aa new mutation which has not been reported has beenis found which has not been reported. Related Articles | Metrics

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KBG syndrome: a case report and literature review CAO Yuhong, ZHANG Liyi , CAO Kaifang, et al Journal of Clinical Pediatrics    2020, 38 (5): 335-.   DOI: 10.3969/j.issn.1000-3606.2020.05.005 Abstract （1813）      PDF（pc） （1727KB）（341）       Knowledge map    Save 　Objective　To explore the clinical features of KBG syndrome and the characteristics of its gnetic mutation. Method　The clinical data and molecular genetic test results of KBG syndrome in a child were retrospectively analyzed, and the relevant literature was reviewed. Results　A boy aged 1 years and 11 months old visited us for psychomotor retardation, deafness and convulsion. He presented a distinctive appearance such as short stature, ptosis, hypertelorism, epicanthal folds, prominent ears and nasal bridge, bulbous nose, long philtrum, macrodontia of the central incisors, clinodactyly and brachydactyly in the hand. Echocardiography showed patent ductus arteriosus. Video-EEG monitoring showed that the epileptic discharge was localized in bilateral parietal and occipital lobes. Genomic sequencing and bioinformatics analysis showed that there was a novel heterozygous mutation of c.316C>T in exon 6 of ANKRD11 gene, leading to premature termination of protein coding (p.R106X). This mutation was predicted to be pathogenic. So the diagnosis of KBG syndrome was confirmed. A total of 28 articles were retrieved. There are about 200 KBG patients reported in the literature, of whom 71% are with ANKRD11 gene mutations and 29% are with 16q24.3 microdeletions, and the ratio of male to female is 1.5:1. The main clinical manifestations of KBGS patients included craniofacial deformity (99%), giant tooth deformity (84%), mental retardation (90%), behavior problems (60%), bone abnormality (75%), short stature (50%) and hearing abnormality (32%). Conclusions　The mutation spectrum of ANKRD11 gene in KBG syndrome has been expanded, and gene detection is helpful for the early diagnosis of KBG syndrome. Related Articles | Metrics

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One case report of Epstein-Barr virus associated hemophagocytic syndrome combined with severe hepatitis　 JIANG Tao, CHEN Weijian, OUYANG Wenxian, TANG Yanfang, YUAN Heli, LI Shuangjie    2016, 34 (1): 16-.   DOI: 10.3969 j.issn.1000-3606.2016.01.005 Abstract （1733）      PDF（pc） （1156KB）（39608）       Knowledge map    Save Objective　To understand the clinical and pathological features of Epstein-Barr virus (EBV) associated hemophagocytic syndrome.Methods　The clinical data from one deceased pediatric patient of EBV associated hemophagocytic syndrome combined with severe hepatitis were retrospectively analyzed. The relevant literatures were reviewed. Results　The 1 year and 2 months old patient presented with fever, cytopenia, decreased fibrinogen and natural killer cells, elevated serum ferritin and triglycerides. The abnormal lymphocytes accounted for 5% in blood smear. There were 1.39×108 EBV-DNA copies/ml by fluorescence quantitative detection The autopsy results suggest that the cause of death was multiple organ failure. The EB virus encoded RNAs (EBERs) were detected in liver tissues by in situ hybridization. Approximately 30% lymphocytes were EBERs positive and the hepatocytes were EBERs negative. Conclusions　The patient was confirmed to have EBV associated hemophagocytic syndrome involving multiple organs. However the liver damage was not caused by the direct infection of EB virus. Related Articles | Metrics

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Clinical characteristics and genetic features analysis of PRRT2-associated paroxysmal diseases ZHOU Yunqing, HE Yingzhong, WANG Cuijin, et al Journal of Clinical Pediatrics    2019, 37 (8): 616-.   DOI: 10.3969/j.issn.1000-3606.2019.08.015 Abstract （1674）      PDF（pc） （1016KB）（420）       Knowledge map    Save Objective　To retrospectively analyze the clinical and genetic characteristics of PRRT2-associated paroxysmal diseases in children, and to improve the understanding of genotype-phenotype association of PRRT2 gene. Methods　The clinical data and genetic results of 15 infant epilepsy or paroxysmal dyskinesia patients with PRRT2 mutations were collected from neurology department of Shanghai Children’s Medical Center between May 2016 to July 2018. Results　A total of 15 patients including 8 males and 7 females were collected . The age at onset ranged from 3 months to 13 months and the median age of onset was 6 months. Thirteen patients presented focal seizures with or without secondary generalization, 1 patient presented infant spasms, and 1 patient had seizures at the age of 8 months and presented paroxysmal dyskinesia at the age of 15 years. Twelve patients had familial histories of paroxysmal diseases. Interictal electroencephalograms of 12 patients were normal, interictal electroencephalograms showed epileptiform discharges in 2 cases, atypical peak arrhythmias were observed in 1 patient. MRI tests were normal in 12 patients and showed deepen cerebral sulcus in 2 patients. Fourteen patients were well controlled after using antiepileptic drugs but 1 patient had recurrence after drug withdrawal, and 1 patient was resistant to antiepileptic drugs. All patients had PRRT2 heterozygous mutations, including 9 cases of duplication mutations (c.649dupC, p.Arg217Profs*8） , 2 cases of missense mutations (c.439G>C, p.Asp147His; c.640G>C, p.Ala214Pro; c.962T>C, p.Leu321Pro), 2 cases of deletion mutations (c.649delC, p.Arg217Glufs*12; c.650delG，p.Arg217Glnfs12*), 2 cases of nonsense mutation (c.649C>T, p.Arg217*; c.970G>T, p.Gly324*). Among these mutations, two were novel mutations （c.962T>C and c.970G>T）. In 15 cases, 13 cases inherited mutations from one of parent, 2 cases were de novo mutation. Eleven patients were diagnosed as benign familial infant epilepsy (BFIE), 2 patients were diagnosed as benign infant epilepsy (BIE), 1 patient was diagnosed as paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and 1 patient was diagnosed as infant spasms. Conclusions　The most common clinical phenotype of PRRT2 gene mutation in pediatrics is BFIE, followed by BIE and PKD/IC. C.649 dupC is the hotspot mutation of PRRT2 gene, and c.962T > C, c.970G > T are likely pathogenic mutations. Related Articles | Metrics

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Genetic diagnosis and follow-up of two children with chromosome 1p36 deletion syndrome LIU Huili, WANG Lili, GAO Xueren , et al Journal of Clinical Pediatrics    2019, 37 (5): 356-.   DOI: 10.3969/j.issn.1000-3606.2019.05.008 Abstract （1568）      PDF（pc） （1477KB）（293）       Knowledge map    Save Objective　To explore the clinical characteristics and growth pattern in patients with 1p36 deletion syndrome. Methods　Chromosomal microarray analysis (CMA) was used to detect genetic changes in two children with growth and developmental delay. Long-term follow-up of one subject was conducted to track the trend of height and weight change. Results Two subjects (one girl and one boy) were reported, both presenting characteristic face, obesity, short stature and intellectual disability (especially delay in language development). CMA identified 1p36.33-p36.32 deletion in both subjects. The girl harbors a 1757 kb heterozygous deletion, and the boy harbors a 2533 kb heterozygous deletion. Both were diagnosed as 1p36 deletion syndrome. Long-term follow-up on this subject from 7 years old and onwards revealed decelerated growth from 12 years old. Conclusions　1p36 deletion syndrome has varied clinical manifestations including typical facial characteristics, developmental delay, and other abnormalities. Females with this syndrome can present decelerated growth in middle adolescence, which eventually leads to short stature. CMA can facilitate the diagnosis of 1p36 deletion syndrome. Related Articles | Metrics

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Expression of SOX10 in cerebral white matter in immature rats with postnatal infections SUN Tingting, XU Yan,WANG Jun, WANG Ruiyan, YU Qiao, FENG Jingjing, LI Huihui    2015, 33 (6): 571-.   DOI: 10.3969 j.issn.1000-3606.2015.06.018 Abstract （1434）      PDF（pc） （1530KB）（29936）       Knowledge map    Save Objective To explore the effect of postnatal infection on SOX10 expression in cerebral white matter in immature rats. Methods A total of 96 newborn SD rats were randomly divided into hypoxia group, lipopolysaccharide (LPS) group, and control group. At day 3 and 6 after birth, the rats in LPS group and hypoxia group were intraperitoneally injected with 0.25 mg/kg of LPS while the rats in control group were injected with normal saline. Meanwhile the rats in hypoxia group were maintained in a hypoxic tank under atmospheric pressure and thermostatic water bath at 37℃ for 2 hours of ventilation with mixed gas containing 8% O2 and 92% N2 at a rate of 2 L/min starting 3 days after birth. At day 7, 10, 14, 21 after birth, eight rats in each groups were sacrificed and the cerebral white matter was extracted. HE staining was performed to observe the pathological changes of cerebral white matter by light microscopy. The expression of SOX10 in cerebral white matter was determined by immunohistochemical and Western blotting analysis. The expression of TLR-4 was determined by Western blotting. Results In LPS group and hypoxia group, the SOX10 positive cells and expressions of SOX 10 and TLR-4 were increased at day 7, reached the peak at day 10, and then gradually declined. There were significant differences between any two time points (P<0.05). In control group, there were a few positive cells and limited expressions of SOX 10 and TLR-4 and there were no differences between any two time points (P>0.05). At each time point, the difference in the SOX10 positive cells and the expressions of SOX 10 and TLR-4 were statistically significant among three groups (P<0.05) in the order of hypoxia group > LPS group > control group and there were significantly differences between each groups (P<0.05). Conclusions Postnatal infections can lead to cerebral white matter lesions in immature rats. The existence of both hypoxia and infection can aggravate the brain injury. The high expression of SOX 10 may have the protective effect. Related Articles | Metrics

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Early-onset epileptic encephalopathy caused by KCNT1 gene mutation: a case report and literature review LIU Zhenmin, JIANG Li Journal of Clinical Pediatrics    2021, 39 (3): 218-.   DOI: 10.3969/j.issn.1000-3606.2021.03.013 Abstract （1377）      PDF（pc） （1555KB）（197）       Knowledge map    Save Objective To explore the clinical characteristics, diagnosis and treatment of early-onset epileptic encephalopathy caused by KCNT1 gene mutation. Methods The clinical data of an early-onset epileptic encephalopathy associated with KCNT 1 gene mutation in a child were retrospectively analyzed, and the related literature was reviewed. Results The female patient aged 2 years and 7 months had frequent seizures since the neonatal stage and the main manifestation was focal clonic seizures accompanied by developmental retardation. The electroencephalogram showed epileptic discharge. There were no obvious abnormalities in cranial imaging and genetic metabolism screening. Genetic testing showed a mutation of c.1041G>C (p.Glu 347 Asp) (NM_ 020822 . 2 ) in KCNT 1 gene. The seizures were relieved after treatment with oral quinidine. Conclusion KCNT1 gene mutation-related early-onset epileptic encephalopathy can be onset in the neonatal period with abnormal psychomotor development. Quinidine may be effective for the treatment. Related Articles | Metrics

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Clinical analysis of epilepsy with cognitive development disorder caused by SYNGAP1 gene mutation in three cases TIAN Yang, PENG Bingwei, LI Jinliang, et al Journal of Clinical Pediatrics    2020, 38 (8): 571-.   DOI: 10.3969/j.issn.1000-3606.2020.08.003 Abstract （1376）      PDF（pc） （1344KB）（282）       Knowledge map    Save 　Objective　To explore the clinical characteristics of epilepsy with cognitive development disorder caused by SYNGAP1 gene mutation in children. Methods　The clinical data of three children with SYNGAP1 mutation revealed by secondgeneration sequencing from 2017 to 2019 were collected and analyzed retrospectively. Results　There were three cases (2 boys and 1 girl), all of them had onset in childhood. Their epileptic attacks were eyelid myoclonia with absence, myoclonic atonic and focal seizure, respectively. All of the three children had cognitive abnormalities, one of them had stereotyped, aggressive behavior, lacking of eye contact and social interaction. No convulsion or developmental disorder was found in their parents and other family members. Three children all had de novo heterozygous mutations in SYNGAP1 gene with autosomal dominant inheritance. The variations include c.623delC (p.P208Qfs*15) in exon 6, c.67+1G＞A (splicing) in exon 1 and c.2158G＞A (p.Asp720Asn) in exon 13, respectively, among which the missense mutation in exon 13 caused focal seizure. Conclusion　SYNGAP1 gene mutation can lead to epilepsy with cognitive developmental disorders, and epileptic seizures has clinical diversity. Related Articles | Metrics

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Analysis of a novel mutation of COL4A5 gene in a child with Alport syndrome JIA Shilei, GAO Xiaojie, MA Yijiao, et al Journal of Clinical Pediatrics    2020, 38 (2): 101-.   DOI: 10.3969/j.issn.1000-3606.2020.02.006 Abstract （1368）      PDF（pc） （1734KB）（533）       Knowledge map    Save Objective　To analyze the genotype and clinical characteristics of Alport syndrome in children. Methods Clinical manifestation and genetic test results of 1 Chinese boy with Alport syndrome were retrospectively analyzed. Results The 11-year-old male patient presented with unexplained hematuria and proteinuria with mild renal dysfunction 4 years ago and progressed to the uremia stage of chronic kidney disease due to poor treatment compliance. There was no high-frequency hearing impairment and ocular fundus pathology. Renal biopsy showed chronic sclerosing glomerular disease and diffuse tubular atrophy (atrophy area over 80%). Immunofluorescence staining of basement membrane of alpha 3 and alpha 5 (IV) were positive. Gene sequencing identified a hemizygous mutation of c.2631dupA (insertion) in COL4A5 gene, resulted in amino acid changes of p.G878Rfs*20 (prematurely termination of protein translation after 20 amino acids). It was identified as a de novo mutation. According to ACMG guidelines. This variant is classified as pathogenic. It has not been reported in the HGMDpro database. Conclusion　Gene sequencing is helpful for the diagnosis of Alport syndrome and the discovery of novel variant of COL4A5 gene. Related Articles | Metrics

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Chromosome 6p25 deletion syndrome: a case report and literature review PAN Xiang, LU Jun, LI Guangxu, et al Journal of Clinical Pediatrics    2020, 38 (6): 463-.   DOI: 10.3969/j.issn.1000-3606.2020.06.015 Abstract （1322）      PDF（pc） （1598KB）（411）       Knowledge map    Save Objective　To explore the clinical characteristics of chromosome 6p25 deficiency syndrome. Method The clinical data of chromosome 6p25 deficiency syndrome in 1 child were retrospectively analyzed and the relevant literature was reviewed. Results　The boy, aged 2 years and 9 months old, presented with language retardation, recurrent respiratory infections, special facial features and hypoplasia of teeth. Ophthalmoscopy revealed changes of AxenfeldRieger syndrome in the anterior segment. Cranial MR suggested right temporal pole arachnoid cyst, dysplasia of corpus callosum, and third and fourth ventricle dilatation. The hearing test was normal, and the brainstem auditory evoked potential indicated poor bilateral waveform differentiation. Genetic testing revealed a heterozygosis deletion of 2.833Mb in the region p25.3-p25.2 of chromosome 6 (chr6:393140-3226909) in the child, so he was diagnosed with chromosome 6p25 deletion syndrome. No case report of chromosome 6p25 deletion syndrome in children was found in the Chinese database. Conclusion　The clinical manifestations of chromosome 6p25 deletion syndrome are diverse, and the main pathogenic genes are FOXC1, SERPINB6, TUBB2A, TUBB2B, and so on. Related Articles | Metrics

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Clinical characteristics and NEB gene mutation analysis of nemaline myopathy in 2 children TANG Jiapeng, ZHAO Guozhu    2018, 36 (12): 898-.   DOI: 10.3969/j.issn.1000-3606.2018.12.003 Abstract （1293）      PDF（pc） （1417KB）（900）       Knowledge map    Save Objective　To explore the clinical and genetic characteristics of nemaline myopathy induced by NEB gene mutation. Method　The clinical data of suspected nemaline myopathy patients and their family members in two families and results of gene sequencing using targeted gene capture second-generation sequencing were retrospective analyzed. Results　The age at onset of proband in both families was around 2 years old. They went to see a doctor because of lower limb muscle weakness and unstable walking. The children had low muscle tension with grade IV limb muscle strength. The electromyography showed no myogenic damage. Serum creatine kinase (CK) level was slightly elevated. Complex heterozygous mutations of c.2227C>T and c.16972G>T in NEB gene which were inherited from parents respectively, were found in one patient by gene testing, and the elder brother was a carrier of c.5971C>T heterozygous mutation. In the other patient, there were complex heterozygous mutations of c.6388G> c and c.17044A>T in the NEB gene which were inherited from the parents respectively. Most of their family members were carriers. Conclusion In patients with myasthenia and hypotonia clinicians should be alert to the possibility of congenital nemaline myopathy. Gene testing is helpful for diagnosis. Both c.5971C>T and c.17044A>T in NEB gene are newly discovered mutation site. Related Articles | Metrics

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Etiology and bone age of 2132 children with short stature WU Su, WANG Sumei, ZHU Ziyang, GU Wei, NI Shining,SHI Xing, LIU Qianqi    2015, 33 (8): 730-.   DOI: 10.3969 j.issn.1000-3606.2015.08.012 Abstract （1293）      PDF（pc） （1184KB）（27829）       Knowledge map    Save 　Objective　The aim of this study is to analyze the etiology and status of bone age of children with short stature. Methods　Anthropological and physical examination data were retrospectively collected and studied in 2132 children with short stature in the department of endocrinology between 2009 and 2014. Growth hormone (GH) levels were determined by arginine-clonidine test. Bone age was determined by CHN scoring. Results　Among the 2132 patients, 1333 were males and 799 were females. Mean age is 9.03 ± 3.04 years old, mean bone age is 6.81 ± 3.05 years. Of them, 324 cases (15.2%) were diagnosed complete GH deficiency, 780 cases (36.59%) were partial GH deficiency, 27cases (1.27%) were multiple pituitary hormone deficiency, 13 cases (1.64%) were hypothyroidism, 893 cases (41.89%) were idiopathic short stature, 19 cases (0.89%) were small for gestational age (SGA), 40 cases (1.88%) were chromosomal disorders, etc. Significant difference in age and bone age was  found using t test (P< 0.05). Significant differences in Δage were found between etiological categories using ANOVA (P=0.000). Δage was significantly and negatively associated with peak GH using Pearson's correlation. Conclusions　GH deficiency is the most common cause of short stature. Bone age of children with short stature is commonly delayed. Δage was significantly and negatively associated with peak GH. Multiple pituitary hormone deficiency has a significant effect on bone age. The etiology of patients with short stature cannot be determined just by bone age. Related Articles | Metrics

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Coffin-Siris syndrome: a case report FANG Danfeng, YE Bin, YU Yongguo, et al Journal of Clinical Pediatrics    2020, 38 (9): 704-.   DOI: 10.3969/j.issn.1000-3606.2020.09.015 Abstract （1276）      PDF（pc） （1425KB）（616）       Knowledge map    Save Objective　To explore the clinical phenotype and gene abnormality of Coffin-Siris syndrome. Method　The clinical data of Coffin-Siris syndrome in a child diagnosed by high-throughput sequencing technology were retrospectively analyzed, and the related literature was reviewed. Results　A male child had feeding difficulties, growth retardation and special facial features after birth. Gene detection showed a mutation of c.6683C>A (p.Ser2228*) in ARID1B gene, , which was a de novo mutation and predicted to be pathogenic. Conclusion　Coffin-Siris syndrome is a rare genetic disease and is difficult to diagnose in early stage, and genetic testing helps the diagnosis. Related Articles | Metrics

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Research progress in primary immunodeficiency disease caused by CARD11 mutation HU Wenhui, HUANG Ying Journal of Clinical Pediatrics    2021, 39 (1): 74-.   DOI: 10.3969/j.issn.1000-3606.2021.01.018 Abstract （1231）      PDF（pc） （1113KB）（708）       Knowledge map    Save The Caspase activation and recruitment domain 11 (CARD 11 ) encodes a scaffold protein which plays an important role in multiple signaling pathways participated by antigen recognition receptors of T cells and B cells, including nuclear transcription factors, c-Jun N-terminal kinase and mammalian rapamycin target protein signaling pathway. The germline variation of CARD11 causes three different primary immunodeficiency diseases, including profound combined immunodeficiency (biallelic loss-of-function mutations), B-cell expansion with nuclear factor κB and T cell anergy (heterozygous, gain-of-function mutations) and severe atopic disease with diverse immunologic phenotypes (heterozygous, dominant negative mutations). Since the clinical manifestations of diseases caused by different CARD 11 germline variations are diverse, it is necessary to conduct functional verification experiments on rare variations to determine their pathogenicity. This article reviews the genotypes, clinical and immunophenotypes, and treatments of CARD11 variant-related diseases. Related Articles | Metrics

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Clinical characteristics and prognosis of childhood TCF3-PBX1 positive acute lymphoblastic leukemia WANG Yu， ZHANG Leping，LU Aidong，ZUO Yingxi，WU Jun    2018, 36 (1): 48-.   DOI: 10.3969/j.issn.1000-3606.2018.01.011 Abstract （1221）      PDF（pc） （1229KB）（612）       Knowledge map    Save Objective　To explore the clinical characteristics and relevant factors affecting treatment and prognosis of TCF3-PBX1 positive acute lymphoblastic leukemia (ALL). Methods　The clinical data of 29 children with newly diagnosed TCF3-PBX1 positive ALL from August 2006 to August 2015 were analyzed retrospectively. The expression level of TCF3PXB1 fusion gene was monitored by regular quantitative reverse transcription polymerase chain reaction. The factors influencing prognosis in children with TCF3-PBX1 positive ALL were analyzed. Results　There were 29 children (16 males and 13 females) with a median age of 8 years (9 months to 16 years). The most common immunophenotype was pre-B cell type (pre-B) (58.6%). The karyotype analysis showed that unbalanced translocation was more common (41.4%). The complete remission rate was 100% on thirty-third day in 29 children, but the minimal residual disease (MRD) was not completely negative. Three cases were relapsed, all of whom were MRD positive. Cox multivariate regression analysis showed that age was an independent risk factor for 5 year overall survival (P<0.05). The 5 year overall survival rate and disease-free survival rate were (82±8)% and (81±7)% respectively. Conclusions　Childhood TCF3-PBX1 positive ALL is a highly heterogeneous disease with high rate of complete remission and good long-term efficacy. The risk stratification and individualized treatment is the key to improve the cure rate. Related Articles | Metrics

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Chronic kidney disease due to variation of PAX2 gene: report of two cases and literature review SUN Xiaopeng, LIN Yi, NIE Nana, et al Journal of Clinical Pediatrics    2021, 39 (12): 905-.   DOI: 10.3969/j.issn.1000-3606.2021.12.006 Abstract （1194）      PDF（pc） （2658KB）（191）       Knowledge map    Save Objective To investigate the clinical manifestation and genetic features of children with chronic renal disease caused by PAX 2 gene variation. Methods The clinical data and genetic test results of 2 children with chronic kidney disease caused by PAX 2 gene variation and their family members were retrospectively analyzed. Relevant literatures were searched and reviewed in PubMed database, China national knowledge infrastructure and Wanfang data knowledge service platform. Results Proteinuria and decreased renal function were observed in 1 boy and 1 girl. Case 1 was in stage Ⅱ of CKD, and case 2 was in stage Ⅲ-Ⅳ of CKD. Both of the 2 children carried pathogenic variations of PAX2 gene through genetic testing. A total of 32 CKD children caused by PAX2 gene variation were retrieved from database, presenting with renal dysplasia, proteinuria, and extra-renal manifestations such as optic nerve defects. Some of the children eventually progressed to end-stage renal disease. Conclusions PAX 2 gene variation associated kidney disease is a rare genetic disease with a variety of clinical phenotypes. Patients with the same variation site may have significant differences in their clinical phenotypes. Gene sequencing is helpful for early diagnosis, and early symptomatic supportive treatment can delay kidney function impairment. Related Articles | Metrics

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Coffin-Siris syndrome caused by ARID1B mutation: a case report and literature review XU Xin, TANG Jian, ZHANG Li, et al Journal of Clinical Pediatrics    2021, 39 (4): 294-.   DOI: 10.3969/j.issn.1000-3606.2021.04.014 Abstract （1190）      PDF（pc） （1594KB）（294）       Knowledge map    Save Objective To explore the clinical and gene characteristics of Coffin-Siris syndrome caused by ARID 1 B mutation. Methods The clinical data and molecular genetic test results of Coffin-Siris syndrome caused by ARID 1 B gene mutation in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A 2 -year- and 8 -month-old was brought to clinic for psychomotor retardation. He had difficulties in feeding and poor weight gain after birth. He presented a distinctive facial appearance including sparse scalp hair, low frontal hairline, arched shaggy eyebrows, long eyelashes, broad nasal tip, flat nasal bridge, thin upper lip, a thick and everted lower lip and thick lip hair. He had hypotonia and small toenails in right foot. A heterozygous missense mutation of c. 6257 T>C (p.Leu 2086 Pro) in ARID 1 B gene was found in the child by whole exome sequencing, which was not found in his parents and was a new variant. A total of 86 reported cases of Coffin-Siris syndrome caused by ARID1 B gene mutation were retrieved through literature search. The clinical characteristics of the patients were basically consistent with the reported cases. Conclusion Coffin-Siris syndrome is a rare autosomal dominant genetic disease that can involve multiple systems, and genetic testing can help diagnose. Related Articles | Metrics

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Analysis of risk factors for complicated parapneumonic effusion in children HAO Xiaojing, AN Shuhua, LI Jinying, LI Quanheng    2016, 34 (2): 97-.   DOI: 10.3969 j.issn.1000-3606.2016.02.004 Abstract （1181）      PDF（pc） （1136KB）（36578）       Knowledge map    Save Objective　To investigate the related risk factors of complicated parapneumonic effusion (CPPE) in children. Method　The clinical data of 88 children with parapneumonic effusion (PPE) were retrospectively analyzed from January 2013 to April 2015. According to the treatment effect of antibiotics, CPPE group and uncomplicated parapneumonic effusion (UPPE) group were divided. The univariate analysis of clinical and laboratory parameters was performed between two groups. Then the multifactor logistic regression was performed further. The receiver operator characteristic (ROC) curve was draw. Results The univariate analysis indicated that the risk factors were the formation of loculation and serum CD3+ and CD19+ levels (Z=2.030~7.457, P<0.05). The multifactor logistic regression showed that the formation of loculation（OR=3.386, P=0.018） and serum CD19+ levels （OR=4.000, P=0.009）were independent risk factors of CPPE. The area under the ROC curve (AUC) is 0.707, which indicated that the regression model had medium diagnostic accuracy (P=0.001). Conclusion　CPPE may be developed in PPE children with the serum level of CD19+ >30% and the formation of loculation. Related Articles | Metrics

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Rubinstein-Taybi syndrome induced by CREBBP gene mutation: a case report 　LI Jianjian, FENG Qingxiang, LEI Yu, LIU Zhenzhen, LI Tao, ZHOU Qian, CHENG Xue    2018, 36 (9): 683-.   DOI: 10.3969/j.issn.1000-3606.2018.09.009 Abstract （1178）      PDF（pc） （1586KB）（576）       Knowledge map    Save 　Objective　To explore the clinical and genetic characteristics of Rubinstein-Taybi syndrome (RSTS). Method The clinical data of a RSTS child diagnosed by gene test was retrospectively analyzed. Results　A male infant, more than 5 months old, had special face such as thick eyebrows, protruded supercilliary arch, down slanting palpebral fissures, epicanthus and ptosis. The whole exome sequencing revealed that there was a missense mutation of c.3609G > C (p.K1203N) in CREBBP gene. Sanger sequencing did not find that his parents carried the above mutations. It may be a new mutation. Conclusion　The mutation site of c.3609G > C (p.K1203N) in CREBBP gene was found and it enriched the gene mutation spectrum of RSTS. Related Articles | Metrics

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Advances in molecular genetics of nephropathy associated with primary coenzyme Q10 deficiency WAN Ling, CHEN Chaoying Journal of Clinical Pediatrics    2022, 40 (1): 73-.   DOI: 10.12372/jcp.2022.21e0173 Abstract （1168）      PDF（pc） （1194KB）（169）       Knowledge map    Save Department of nephrology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020 , China) Related Articles | Metrics

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Combined oxidative phosphorylation deficiency-21: a case report and literature review ZOU Dongfang, WEN Feiqiu, LIAO Jianxiang Journal of Clinical Pediatrics    2021, 39 (9): 687-.   DOI: 10.3969/j.issn.1000-3606.2021.09.011 Abstract （1151）      PDF（pc） （1670KB）（152）       Knowledge map    Save Objective To explore the clinical features and molecular genetic characteristics of combined oxidative phosphorylation deficiency- 21 (COXPD 21 ). Method The clinical data of COXPD 21 in a child were retrospectively analyzed and the related literature was reviewed. Results A 6 -month-old boy had developmental retardation. Epilepsy began at 3 months of age and was manifested with focal seizures, spasms, and myoclonus. The convulsions aggravated after respiratory infections, accompanied by comma, cyanosis, breathlessness, low cardiac sound, hepatomegaly, muscular hypertonia of extremities. The laboratory examinations showed diffuse myocardial damage, severe acidosis and hyperlactic acidemia. Whole genome sequencing (WGS) revealed that the proband had compound heterozygous variations in the TARS 2 gene, c. 987 _ 988 insA and c. 470 C>G, both of which were new variations. The child was diagnosed with COXPD 21 and died at the age of 7 months. Conclusions COXPD 21 has an early onset and poor prognosis, and can lead to severe metabolic encephalopathy. It is caused by TARS2 gene variation. This is the first reported case of COXPD 21 confirmed by genetic testing in China. Related Articles | Metrics

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Clinicopathological analysis of large B-cell lymphoma with IRF4 gene rearrangement in children WU Chongjun, HUANG Hui, XIONG Ting, et al Journal of Clinical Pediatrics    2020, 38 (9): 655-.   DOI: 10.3969/j.issn.1000-3606.2020.09.004 Abstract （1143）      PDF（pc） （1793KB）（1056）       Knowledge map    Save Objective　To explore the clinical and pathological features of large B-cell lymphoma with IRF4 gene rearrangement in children. Method　The clinical data of large B cell lymphoma with IRF4 gene rearrangement in 3 children were retrospective analyzed. Results　All the three cases were male and the age at onset was from 5 years and 4 months to 7 years and 10 months. The onset sites were tonsils, ileocecal, and cervical lymph nodes. The findings in histopathological morphology and immunohistochemistry of 3 children after surgery showed that the tumor cells were nodular or diffusely distributed. The tumor cells all expressed CD20, MUM1, BCL-6, and BCL-2, and they expressed CD10 in 2 cases. FISH was performed and showed fracture in IRF4 gene were negative in 2 cases and was positive in 1 case. All patients were diagnosed of large B-cell lymphoma with IRF4 gene rearrangement. All 3 cases were treated according to the CCCG-NHL-2016 regimen, 2 cases in group R2 and 1 case in group R3. Two patients had finished chemotherapy for more than one year, and no recurrence was found up to now. A child in R2 group with onset site of cervical lymph node was still under treatment and had achieved complete remission. Conclusion　Large B-cell lymphoma with IRF4 gene rearrangement in children is rare. FISH detection of IRF4 gene is helpful for diagnosis and its treatment can be according to the CCCG-NHL-2016 regimen. Related Articles | Metrics

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2014, 32 (6): 504-511.   Abstract （1128）      PDF（pc） （744KB）（1930）       Knowledge map    Save Reference | Related Articles | Metrics

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Analysis of a pedigree with mitochondrial disease caused by POLG gene mutation PENG Bingwei, ZENG Yiru, HOU Chi, et al Journal of Clinical Pediatrics    2020, 38 (8): 578-.   DOI: 10.3969/j.issn.1000-3606.2020.08.005 Abstract （1121）      PDF（pc） （1381KB）（377）       Knowledge map    Save 　Objective　To explore the clinical phenotype and gene variation of patients with mitochondrial disease caused by POLG gene variation in a family. Methods　The clinical data of a patient diagnosed with mitochondrial disease caused by POLG gene mutation in May 2019 were analyzed retrospectively. The peripheral blood DNA was collected for next generation sequencing (NGS), and Sanger sequencing was performed to verify the variations detected by NGS. Results The proband, a 10-year-old boy, had the same physical signs as his twin elder brother, including deep sensory impairment, disappearance of tendon reflex, and suspected muscular atrophy. Three elder brothers and elder sisters of the proband died in their first years. Blood samples were collected from family members, including the proband’s parents and siblings. Two compound heterozygous variations of c.2558 G >A (p.R853Q) and c.2890>T (p.R964C) in POLG gene were found in both the proband and his living twin elder brother, which inherited form both of their father and mother, respectively. Conclusions　Phenotypes are different among the family members of mitochondrial disease with POLG gene mutations. The clinical heterogeneity of POLG-related diseases is great even with same variation. Related Articles | Metrics

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Marfan syndrome caused by new mutation of FBN1 gene: a case report and literature review WANG Hongli, HOU Miao, WANG Bo, YAN Wenhua Journal of Clinical Pediatrics    2019, 37 (7): 541-.   DOI: 10.3969/j.issn.1000-3606.2019.07.015 Abstract （1112）      PDF（pc） （1491KB）（234）       Knowledge map    Save Objective　To improve the understanding of clinical phenotype and genotype of Marfan syndrome (MFS). Method　Clinical data of Marfan syndrome with FBN1 gene mutation in a child was retrospectively analyzed and related literature was reviewed. Results　A 4-year-4-month-old girl had a special facial features (long face, hypertelorism, high palatal arch) and spider-like fingers and toes. The patient is slender with a height of 115.0 cm (>P97), the span of upper limbs is 118.8 cm, the upper part is 60 cm, the lower part is 55 cm, and the weight is 19 kg (P50~P85). A grade II/VI systolic murmur could be heard at the apex of heart. Color echocardiography showed an atrial septal defect (4 mm), mitral valve disease with moderate regurgitation, tricuspid valve disease with mild to moderate regurgitation, and slightly widened sinus valsalva of the aorta. Cardiac CT showed the enlargement of left atrial and left ventricular. The chest radiograph showed the patchy shadow of the right lung, a slightly plump shadow of the heart, and locally uplifted right diaphragm. The patient had a history of right upper limb fracture and suffered from binocular ametropia. DNA was extracted from venous blood of child and her parents, and gene detection was performed by exon chip capture and high throughput sequencing. The results showed that there was a c.865 dupA heterozygous mutation of FBN1 gene in the child, which had not been reported. The mutation resulted in amino acid conversion from isoleucine (Ile) to asparagine (Asn) at position 289 and amino acid conversion from aspartic acid (Asp) to termination codon at position 290, leading to the early termination of amino acid coding. Pedigree examination showed that the mutation originated from the father of the child, and the father also had MFS with heterozygous mutation. Conclusion　A new exon heterozygous mutation of c.865dupA in FBN1 gene was found to cause MFS. Related Articles | Metrics

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Rapidly progressive puberty in a girl with Williams syndrome and follow-up for GnRHa treatment JIANG Lihong, BAO Pengli, ZHENG Rongxiu, et al Journal of Clinical Pediatrics    2021, 39 (4): 298-.   DOI: 10.3969/j.issn.1000-3606.2021.04.015 Abstract （1094）      PDF（pc） （1478KB）（234）       Knowledge map    Save Objective To explore the treatment of precocious puberty in girls with Williams syndrome (WBS). Methods The clinical data of rapidly progressive puberty in a girl with WBS were retrospectively analyzed, and the relevant literature was reviewed. Results A 9 years and 5 months old girl was brought to clinic due to breast development for more than one year and menstruation for three times. According to the special facial features, supraaortic stenosis, mental retardation, precocious puberty and medical exon sequencing results, the diagnosis of WBS was confirmed. The child met the diagnostic criteria of rapidly progressive puberty because the bone age of the child was 2 years older than her chronologic age, the uterine length was 37 mm, the endometrium was 5 mm, the bilateral ovaries had several follicles larger than 4 mm, the ovarian volume was 3 - 4 mL, the random level of luteinizing hormone (LH) was 3 . 43 mIU/mL, and the bone age height SDS was - 1 . 92 , and was treated with GnRHa. Reexamination after 1 year of treatment showed that the child’s sex hormones were at prepubertal level, the annual height growth rate was 5 . 3 cm, and the height SDS of bone age was - 1 . 55 . Conclusions Children with WBS may have precocious puberty (rapidly progressive puberty). The application of GnRHa intervention can improve the adult height in children with WBS and relieve the anxiety of parents. Related Articles | Metrics

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A case report of Snijders Blok-Campeau syndrome caused by a novel mutation of CHD3 gene and literature review LIU Lai, ZHU Dengna, TIAN Yuan, et al Journal of Clinical Pediatrics    2021, 39 (11): 832-.   DOI: 10.3969/j.issn.1000-3606.2021.11.009 Abstract （1079）      PDF（pc） （1299KB）（445）       Knowledge map    Save Objective To improve the understanding of clinical phenotype and genotype of Snijders Blok-Campeau syndrome. Methods Clinical data, whole exome sequencing and CNV-Seq results of a case of Snijders Blok-Campeau syndrome were retrospectively analyzed; and relevant literatures in CNKI, Wanfang data knowledge service platforms and PubMed were summarized and analyzed. Results A 13 -month old girl presented with comprehensive developmental delays, small palpebral fissure, ocular hypertelorism, wide bridge of the nose, sparse eyebrows and low ear-setExome, sequencing and CNV-Seq test found a de novo missense variant of c.3709T>C ( p.F1237L ) in CHD3 gene, which has not been reported in the Human Gene Mutation Database and ClinVar. A total of 61 patients with Snijders Blok-Campeau syndrome were found in literatures and 47 patients were found with de novo mutations, and most of which were missense mutations. The common clinical phenotypes of the patients are developmental retardation, mental retardation, speech retardation, hypotonia and unique facial features. Conclusion A novel variant of c. 3709 T>C in CHD3 gene that causes Snijders Blok-Campeau syndrome was identified. A variety of CHD3 gene variants can lead to Snijders Blok-Campeau syndrome, the patient's unique facial features and genetic testing can contribute to the diagnosis. Related Articles | Metrics

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Clinical characteristics and mutation analysis of ATP1A3 gene associated paroxysmal diseases SUN Yulin, YANG Guang, WAN Lin, et al Journal of Clinical Pediatrics    2020, 38 (11): 817-.   DOI: 10.3969/j.issn.1000-3606.2020.11.004 Abstract （1068）      PDF（pc） （1201KB）（300）       Knowledge map    Save Objective To summarize the clinical characteristics of ATP 1 A 3 gene associated paroxysmal diseases, and to explore clinical phenotype and genotype relationship. Methods Clinical data and genetic test results of four children with ATP 1 A 3 gene associated paroxysmal diseases recruited from September, 2018 to December, 2019 were retrospectively analyzed. Results Four male patients were recruited. The median age of onset was 5 months (ranged from 20 days to 9 months) . Clinical phenotypes of the four children were alternating hemiplegia of children (AHC), AHC with epilepsy, epilepsy, and CAPOS (cerebellar ataxia, areflexia, pes cavus, opticatrophy, and sensorineural hearing loss) syndrome respectively. The initial symptoms and clinical manifestations were different, but there was some overlap. All four children were found with heterozygous mutations in the ATP 1 A 3 gene, including three de novo and one maternal inherited missense mutation. Among which, c.2423 C>T, has not been reported, and c.2839 G>C, c.2401 G>A and c.2452 G>A are reported as pathogenic mutations. Conclusions ATP 1 A 3 gene mutations can cause different clinical phenotypes such as AHC, CAPOS syndrome and epilepsy. c.2423C>T, is a novel pathogenic mutation that has not been reported. Related Articles | Metrics

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Familial short stature caused by ACAN gene mutation: a familial case report　 ZENG Ting, LIAO Linyan, LI Niu, WANG Jian, PENG Ji, GUO Yi, LI Honghui    2018, 36 (6): 463-.   DOI: 10.3969/j.issn.1000-3606.2018.06.015 Abstract （1061）      PDF（pc） （1192KB）（506）       Knowledge map    Save 　Objective　To explore the clinical phenotype and genetic variation of familial short stature. Method　The clinical data of a familial short stature pedigree in Guangxi Zhuang autonomous region were retrospectively analyzed. The diseasecausing gene was identified using targeted high-throughput sequencing combined with Sanger sequencing in May 2017. The related literature were searched and the relationship between the clinical phenotype and genotype of the ACAN gene mutation were summarized. Results　The two patients were brothers, one was 9-year and 10-month old boy and the other was 7-year-old boy. Both of them had short stature. Their parents were non-consanguineous marriage and both were 150 cm in height, with. Their uncle and grandpa are also short stature. Gene sequencing revealed a novel heterozygous variation c.6193delC (p.Gln2065Serfs*27) in exon 12 of ACAN gene in both brothers, which were inherited from their father. No report of this mutation was found by searching literature and databases. A total of 11 related articles in English were retrieved. Totally (including our study) 32 patients in 41 families were reported to have the pathogenic variants of ACAN gene, including 4 variants from Chinese children, but no such reports were found in Chinese literatures. The most common clinical manifestation is idiopathic short stature, which is mostly familial but could also be sporadic. Some children also suffered from osteoarthritis, disc herniation or degeneration. Most of the children had advanced bone age, but some of them were normal or even lagged. Treatment of postponing puberty by growth hormone combined with gonadotropin-releasing hormone analogues can effectively improve final height. Conclusion　Heterozygous mutation of ACAN gene can cause short stature in children and has significant familial genetic characteristics, and the clinical characteristics have no relationship with genotypes. Related Articles | Metrics

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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）（1170）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics

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Efficacy of recombinant human growth hormone therapy in familial short stature with ACAN gene variants and review of literature ZHAO Lili , ZHU Yilin, YUAN Ke, et al Journal of Clinical Pediatrics    2021, 39 (1): 59-.   DOI: 10.3969/j.issn.1000-3606.2021.01.015 Abstract （1051）      PDF（pc） （1764KB）（246）       Knowledge map    Save Objective ACAN gene is one of the most frequently mutated genes in familial short stature (FSS), which has key roles in endochondral ossification and maintaining the biological function of cartilage. To observe the efficacy of recombinant human growth hormone (rhGH) for increasing the height of children of FSS with ACAN gene variants. Methods Clinical data obtained from 2 pedigrees of FSS caused by ACAN gene variants at our institution were retrospectively analyzed. Relevant electronic databases were searched for studies assessing the therapeutic effect of rhGH in children of FSS with ACAN gene variants. Results? The proband of family 1 was a 4 -year and 1 -month-old boy and without skeletal deformity, when his height was 90 . 5 cm (-3 . 6 SD) and weight 13 . 5 kg. His bone age was 5 years and 6 months. Genetic testing identified a heterozygous deletion mutation in ACAN gene (c. 5026 _ 5027 del, p. Ser 1676 Ter). His height increased by 13 cm (Ht: 103 . 5 cm, -1 . 8 SD) in the first year of treatment with rhGH ( 50 μg·kg- 1 ·d- 1 ) and height increased by 17 . 1 cm (Ht: 107 . 6 cm, -1 . 7 SD) after 18 months of treatment. The proband of family 2 was a 3-year-old boy without skeletal deformity, when his height was 82cm (-3.9 SD) and weight 12 kg. His bone age was 1 year and 6 months. Genetic testing identified a heterozygous missense mutation in ACAN gene (c.1504C>T, p.R502C). His height increased by 12cm (Ht:94cm, -2.6 SD) in the first year of treatment with rhGH (33 μg·kg- 1 ·d- 1 ) and height increased by 17 cm (Ht: 99 cm, -2 . 68 SD) after 22 months of treatment. Conclusion? Heterozygous deletion mutation(c.5026 _ 5027 del) and heterozygous missense mutation(c.1504 C>T) of ACAN gene can cause FSS. rhGH therapy can effectively improve the height of children of FSS with ACAN gene variants in the short term. It is recommended to detect gene in patients of FSS and to treat the disease with rhGH as early as possible. Related Articles | Metrics

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ZTTK syndrome caused by a novel mutation of SON gene: a case report YUN Guojun, WANG Jinggang, LI Qingyun, et al Journal of Clinical Pediatrics    2021, 39 (11): 825-.   DOI: 10.3969/j.issn.1000-3606.2021.11.007 Abstract （1051）      PDF（pc） （1333KB）（567）       Knowledge map    Save To analyze the clinical phenotype and genetic characteristics of Zhu-Tokita-TakenouchiKim (ZTTK) syndrome caused by SON gene mutation. Methods The clinical data of ZTTK syndrome from one proband were collected, and the suspected ZTTK syndrome was diagnosed by the next generation sequencing technology and Sanger sequencing. Results A 3 -year-old boy presented with psychomotor developmental delay, intellectual disability, ECG abnormality and hypoplasia of the corpus calloum. Gene tests found a de novo heterozygous mutation of c. 5753 - 5756 del, (p.Val 1918 Glufs* 87 ) in the SON gene. According to the ACMG guidelines, the mutation was classified as pathogenic. Conclusions The patient’s clinical phenotype was consistent with ZTTK syndrome. The heterozygous mutation of c. 5753 - 5756 del, p.Val1918 Glufs* 87 in SON was pathogenic, which enriches the SON gene variant spectrum in Chinese children. Related Articles | Metrics

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Chromosome 1p32-p31 deletion syndrome: a case report and literature review WAN Ruiping, ZHU Xiaodan, ZHANG Meibo, WU Yanling, HUANG Xiaofei    2018, 36 (12): 908-.   DOI: 10.3969/j.issn.1000-3606.2018.12.006 Abstract （1050）      PDF（pc） （1602KB）（360）       Knowledge map    Save 　Objective　To explore the clinical features of chromosome 1p32-p31 deletion syndrome. Method　The clinical data of chromosome 1p32-p31 deletion syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A 6-month-old boy with gestational age of 39+2 weeks and birth weight of 2.2 kg, suffered from mild asphyxia at birth and development retardation after birth. The child had special facial features including prominent forehead and occiput, telecanthus, narrow palpebral fissures, low set ears, laigh nose bridge, small nose, thin lip, small chin and high palate. Furthermore, he had right undescended testis, hydrocele of left testis, short fingers and toes, and slightly lower muscle tension of the limbs. Gesell development scale demonstrated that the child had moderate global developmental delay with a full scale score of 46. The Brain MRI showed less white matter, widened bilateral lateral ventricles, and the slender posterior part of the corpus callosum. EEG displayed slightly slower background rhythm than that of health children with the same age. Brainstem auditory evoked potentials showed response threshold of 65 dB in left ear and 40 dB in right ear. High-throughput DNA sequencing revealed an 11.84 Mb deletion in the 1p32.3-p31.3 region (chr1:54560001-66400000, hg19), containing multiple genes including the NFIA gene. Conclusion　Clinical features of chromosome 1p32-p31 deletion syndrome include hypoplastic corpus callosum, ventriculomegaly or hydrocephalus, macrocephaly, facial dysmorphisms, different degrees of developmental retardation, and some have urinary system abnormalities. The NFIA gene is a key gene responsible for the disease. Related Articles | Metrics

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Kabuki syndrome caused by a new mutation of KMT2D gene: a case report YANG Guihua, SUN Yanfang, LI Huiyuan, et al Journal of Clinical Pediatrics    2020, 38 (6): 467-.   DOI: 10.3969/j.issn.1000-3606.2020.06.016 Abstract （1048）      PDF（pc） （1478KB）（750）       Knowledge map    Save Objective　To explore the genetic mutation in Kabuki syndrome and the correlation between genotype and phenotype. Methods　The clinical data of Kabuki syndrome in one proband were collected, and the suspected Kabuki syndrome was diagnosed by high-throughput gene sequencing, biological information analysis, database screening and other methods. Results　A 10-year-old boy had slow response since birth, recurrent otitis media, and special facial features (long palpebral fissure extending laterally, eversion of the lateral third of the lower eyelid, arched eyebrows with lateral 1/3 sparse eyebrows, flat nasal tip, short septum of nose, large and prominent ears, abnormal eruption and arrangement of teeth, and micrognathia). The child had abnormal renal function with progressive aggravation. Genetic analysis confirmed that there was a heterozygous variation of c.8214dupC (p.Phe2739fs) in the KMT2D gene of the child, which has not been reported in the literature. No variation was found in this locus in the parents, and it was a new mutation. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the comprehensive analysis of this variation revealed that it is consistent with "pathogenic". Conclusions　High throughput sequencing and bioinformatics analysis are helpful for the diagnosis of Kabuki syndrome. A new mutation in KMT2D gene was found, which had not been reported before. Related Articles | Metrics

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Assessment of cardiac involvement related to iron overload in β-thalassemia major LONG Xingjiang, JIN Lin    2015, 33 (5): 490-.   DOI: 10.3969 j.issn.1000-3606.2015.05.023 Abstract （1041）      PDF（pc） （1238KB）（26131）       Knowledge map    Save Cardiac involvement related to iron overload caused by long-term blood transfusion is a major cause of death for patients with thalassemia major. Patients’ survival will be improved greatly if cardiomyopathy resulted from transfusional iron overload could be detected timely and effective iron chelation be initiated promptly. In the present article, various evaluation methods currently used in clinical practice are reviewed, with particular focus on cardiac MRI for the monitoring of myocardial involvement related to iron overload. Related Articles | Metrics

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X-linked intellectual disability caused by OPHN1 gene mutation: a case report and literature review MA Hongxia, GUO Yuxiong, ZHAI Qiongxiang Journal of Clinical Pediatrics    2020, 38 (5): 331-.   DOI: 10.3969/j.issn.1000-3606.2020.05.004 Abstract （1035）      PDF（pc） （2022KB）（513）       Knowledge map    Save Objective To report a case of X-linked intellectual disability and explore the relationship between its clinical phenotype and genotype. Method　The clinical data of a male child with epilepsy and intellectual disability were retrospectively analyzed. The whole exome capture sequencing was used to analyze the gene mutation. Results　The male child had delayed development in the 4th month of age. Seizure was noted in the 5th months of age. Mental retardation was found when he was 4-years old. The tested visual acuity suggested high myopia at 7 years old. Scalp EEG recording indicated epileptic discharge. Mega cisterna magna was observed on brain MRI. The total intelligence quotient was 49. Social adaptive quotient was assessed as moderately abnormal. Sequence analysis demonstrated a novel frameshift mutation c.1641delA (p.K547fs*5) in exon 19 of OPHN1 gene in the patient. The family co-separation verification found that the healthy mother carried the variation. According to the ACMG guidelines, the mutation was classified as pathogenic. The anti-epilepsy drugs sodium valproate and lamotrigine were effective. Conclusions　The OPHN1 gene mutation c.1641delA(p.K547fs*5) may be the cause of X-linked intellectual disability. The clinical phenotypes of the patient included epilepsy, moderate intellectual disability, high myopia and mega cisterna magna on brain MRI. Related Articles | Metrics

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Clinical features and CDKL5 gene mutation analysis of 3 cases with early epileptic encephalopathies 　LIU Xiaojun， ZHANG Peiyuan，LEI Meifang，SHU Jianbo， ZHANG Yuqin    2018, 36 (11): 809-.   DOI: 10.3969/j.issn.1000-3606.2018.11.001 Abstract （1035）      PDF（pc） （1340KB）（265）       Knowledge map    Save Objective　To investigate clinical features and cyclin-dependent kinase-like 5 (CDKL5) mutations in 3 cases with early epileptic encephalopathies（EEEs ） Methods　Clinical data of 3 cases with EEEs were retrospectively analyzed. Next generation sequencing (NGS) was used to detect CDKL5 genes mutations, and Sanger sequencing was performed to confirm the mutations identified by NGS. Results　The three patients are one male and two females, aged 3 years old, 8 years old and 3 months old, respectively. Case one was found to have a hemizygous mutation c. 2854 C＞T in CDKL5 which was inherited from his mother, case two was found to have a de novo nonsense mutation c.858 C＞A，and case 3 was found to have a de novo frame shift mutation c. 1363delG. Conclusions　The mutation in CDKL5 lead to EEEs, and the newly found c. 1363delG expands the mutation spectrum of the CDKL5 gene． Related Articles | Metrics

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Analysis of the factors related to recurrent vasovagal syncope in children XU Meng, HUANG Min, SHEN Jie, XIAO Tingting, WANG Jianyi, HUANG Yujuan    2016, 34 (3): 192-.   DOI: 10.3969 j.issn.1000-3606.2016.03.009 Abstract （1032）      PDF（pc） （1170KB）（35665）       Knowledge map    Save Objective To explore the factors related to vasovagal syncope (VVS) in children. Methods The clinical data of 125 children with confirmed VVS were collected. According to the frequency of syncope during the five years from first episode to the time of head-up tilt test, the children with 2 or 3 episodes of syncope were assigned into the low episode group, and the children with 4 or more episodes of syncope were assigned into the high episode group. The two groups were analyzed and compared. Results Among the 125 children, 84 children (67.2%) were in the low episode group and 41 children (32.8%) were in the high episode group. The single factor analysis showed that the age at head-up tilt test, onset of syncopal, causes of syncope, history of carsickness, and positive family history were associated with high attack frequency. The results of non-conditional logistic regression analysis showed that causes of syncope (OR = 3.723, 95% CI: 1.163-11.918, P = 0.027), history of carsickness (OR = 5.929, 95% CI: 2.066-17.015, P = 0.001), and positive family history (OR = 6.794, 95% CI: 2.006-23.013, P = 0.002) were the independent risk factors of high attack frequency. Conclusions The causes of syncope (excluding persistent standing), history of carsickness, and positive family history have important clinical significance in predicting high attack frequency of VVS in children. Related Articles | Metrics

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Genotype-phenotype analysis of two cases with Joubert syndrome 17 in a family HUANG Qinrong, LUO Minna, CHEN Yuxia, et al Journal of Clinical Pediatrics    2020, 38 (8): 566-.   DOI: 10.3969/j.issn.1000-3606.2020.08.002 Abstract （1029）      PDF（pc） （1608KB）（495）       Knowledge map    Save 　Objective　To explore the clinical feature, genotype-phenotype correlations of Joubert syndrome (JS). Methods　Clinical data, imaging features of two children with JS in a family were collected, targeted genome sequencing was applied to examine the DNA sample of all the members of the family. Literatures of JS were reviewed. Results　The sister is 18 years old, and younger brother was 13 years old, their main manifestations were hypotonia and developmental delay. No anomaly was found in eye, kidney, and liver. Brain MRI showed "molar tooth sign". Intelligence quotient (IQ) of the sister and the younger brother by Wechsler Intelligence Scale was 64 and 71, respectively. Genetic tests revealed compound heterozygous variants of c.8263dupA inherited from mother and c.-47-3C> A from father in the CPLANE1 gene which were segregated in an autosomal recessive mode of inheritance. The siblings were diagnosed as JS type 17, classic JS. Conclusion　The variants in the CPLANE1 gene of the siblings were firstly reported in China. Related Articles | Metrics

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Recurrence risk of MOG antibody disease in children YANG Sai, LIAO Hongmei, WU Liwen, et al Journal of Clinical Pediatrics    2021, 39 (12): 916-.   DOI: 10.3969/j.issn.1000-3606.2021.12.009 Abstract （1017）      PDF（pc） （1622KB）（331）       Knowledge map    Save Objective To analyze the risk factors for recurrence of MOG antibody disease (MOG-AD) in children, and to provide scientific basis for clinical prediction of disease recurrence. Methods The clinical data of 71 children with positive MOG antibody and central nervous system (CNS) acute demyelinating syndromes (ADS) developed for the first time from January 2016 to June 2020 were collected. The follow-up period ranged from 6 months to 4 years. The clinical data, laboratory examination and imaging characteristics, treatment and follow-up results of recurrent and nonrecurrent groups were compared. Results Among the 71 children, 29 were boys and 42 were girls, with a median age of 6.3 (4.4~9.0) years. The clinical characteristics of first episode were fever (35 cases), hemiplegia (28 cases), myelitis (28 cases), encephalopathy ( 27 cases), headache ( 22 cases), epilepsy ( 20 cases) and optic neuritis (ON, 18 cases). Brain MRI showed multiple intracranial lesions involving subcortical, white matter, basal ganglia, optic nerve and other parts of the brain. MRI of spinal cord showed abnormalities in 35 cases, presenting as single-segment and multi-segment spinal cord lesion or total myelopathy. The median follow-up was 36 ( 18 ~ 48 ) months. There were 26 recurrent children ( 36 . 62 %), including 8 boys and 18 girls, with a median age of 6 . 0 ( 4 . 0 ~ 9 . 0 ) years. The most common clinical diagnosis was acute diffuse encephalomyelitis ( 34 cases), followed by ON ( 18 cases). Binary logistic regression analysis found that first episode characterized by ON, the presence of prodromal respiratory tract infection, and intravenous methylprednisolone (IVMP) alone in the first treatment were independent risk factors for relapse (P< 0.05). Conclusions The clinical phenotypes of MOG-AD in children are diverse. The first episode characterized by ON, the presence of prodromal respiratory tract infection, and IVMP alone in the first treatment were important predictors of recurrence. Related Articles | Metrics

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Expression and clinical essential of chemokines CCL3 and CCL4 in children with ITP CHEN Dongping, LUO Xi, HUANG Pei, GUO Yimin, WU Liusong, HE Zhixu, CHEN Yan Journal of Clinical Pediatrics    2022, 40 (2): 95-100.   DOI: 10.12372/jcp.2022.21e1233 Abstract （1009）   HTML （8）    PDF（pc） （1232KB）（158）       Knowledge map    Save Objective To investigate expression and clinical significance of chemokines CCL3 and CCL4 in childhood immune thrombocytopenia (ITP). Methods Children with ITP diagnosed in Affiliated Hospital of Zunyi Medical University from December 2019 to April 2020 were selected as study subjects, and were divided into newly diagnosed group (n=37, disease duration ≤3 months) and non-newly diagnosed group (n=27, disease duration >3 months) according to the disease duration, and into pre-treatment group (n=29) and post-treatment group (n=35) according to the timing of specimen collection (at the first diagnosis and 7th day of hospital admission); and healthy children with outpatient health examination were used as the control group, and the expression of CCL3 and CCL4 and platelet-related indexes were compared between different groups. Results A total of 64 children with ITP, 42 males and 22 females, with a median age of 5.1 (3.0-8.0) years, and 19 healthy controls, 12 males and 7 females, with a median age of 4.2 (2.8-6.0) years, were included. The differences in PLT counts, MPV, P-LCR, PDW, PCT, and IgG levels between the pre-treatment group, post-treatment group, and control group were statistically significant (P<0.05); PLT counts and PCT were lower and MPV, P-LCR, PDW, and IgG were higher in the pre-treatment group. CCL3 and CCL4 concentrations were higher in the newly diagnosed and non-newly diagnosed groups than in the control group, with statistically significant differences (P<0.05). The CCL3 and CCL4 concentrations were higher in the pre-treatment and post-treatment groups than in the control group, and the CCL3 and CCL4 concentrations were lower in the post-treatment group than in the pre-treatment group, with statistically significant differences (P<0.05). The differences in CCL3 and CCL4 expression between different bleeding score groups of ITP were statistically significant (P<0.05). The expression levels of CCL3 and CCL4 increased gradually with the increase of bleeding score. The CCL3 and CCL4 expression levels in the treatment ineffective group were higher than those in the complete response group and the response group, while the CCL3 and CCL4 expressions in the response group were lower than those in the complete response group, and the differences were statistically significant (P<0.05). Conclusion CCL3 and CCL4 can be used as children's molecular markers of ITP to assess its severity and response to treatment. Table and Figures | Reference | Related Articles | Metrics

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The clinical characteristics and gene diagnosis of Rubinstein-Taybi syndrome CHENG Yanyang, LIU Aojie, WEI Li, ZHANG Jing, XU Zhiliang    2018, 36 (3): 207-.   DOI: 10.3969/j.issn.1000-3606.2018.03.011 Abstract （1006）      PDF（pc） （1268KB）（548）       Knowledge map    Save Objective　To explore the clinical and genetic features of Rubinstein-Taybi syndrome (RSTS). Methods　The clinical data of 2 children with RSTS were reviewed and analyzed. Results　Two male children (3 years old and 4 months old) were admitted to hospital because of growth retardation. Both of them were characterized by short stature, language and motor retardation, excessive hairiness and cryptorchidism. Case 1 had slightly broad thumbs and toes, and case 2 had distinctive facial features of high arched palate, broad nasal bridge, ptosis, and obviously broad thumbs and toes. Cardiac dysplasia was found in both of them by echocardiography. The c.152T>G (L51X) heterozygous mutation was found in case 1 by high throughput sequencing and genomic chip technology, and this mutation has not been reported. Deletion of 2.5 Mb in chromosome 16p13.3 region was found in case 2. Conclusions　The main clinical manifestations of RSTS are excess hair, deformity of thumbs and toes, deformity of the heart development, and growth retardation. Molecular detection can help the clinical diagnosis. Related Articles | Metrics

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Effect of chemotherapy regimen CCLG-ALL-2008 on children with TEL/AML1 fusion gene positive of acute lymphoblastic leukemia 　GAO Jing，HU Shaoyan，LU Jun，HE Hailong，WANG Yi，ZHAO Wenli，LI Jianqin，LI Jie，XIAO Peifang，FAN Junjie，CHAI Yihuan    2017, 35 (5): 325-.   DOI: 10.3969/j.issn.1000-3606.2017.05.002 Abstract （1000）      PDF（pc） （1456KB）（400）       Knowledge map    Save Objective　To evaluate the predictive role of TEL/AML1 fusion gene in protocol CCLG-ALL-2008 and to identify relevant factors influencing the outcome of ALL with TEL/AML1 fusion gene. Methods　Ninety-nine patients with ALL harboring TEL/AML1 fusion gene (positive) and 329 cases without any specific fusion genes (negative) at diagnosis of B-lineage ALL from June 2008 to December 2014 were enrolled and their clinical and biological features were analyzed. Following-up ended in October 2015, the survival status was calculated by K-M curve and prognostic factors were analyzed by COX model. Results　There were no differences between the two groups in age, white blood cell at the diagnostic stage, and treatment responses at 4 time points, namely, prednisone good response on day 8, M3 status of BM on D15, and the minimal residual disease (MRD) more than 1.0×10-3 on day 33 and 12th week. During the follow-up period, the relapse rate was lower in the positive group than that in the negative group (14/99 vs 69/329), the mortality rate of the negative group was twice of that in the positive group (55/329 vs 8/99). The five-year overall survival (OS) rate, relapse-free survival (RFS) rate and event-free survival (EFS) rate of the positive group were (86.1 ± 4.9)%, (80.7 ± 5.1)% and (78.9 ± 5.1)%, respectively, and (79 ±2.8)%, (72± 3.1)%, and (69.6+ 3.1)% for the negative group as well. COX regression analysis indicated that relapse and MRD level at the 12th week were independent prognostic factors on OS, RFS, and EFS (P<0.05) for the two groups. Conclusions　TEL/AML1 fusion gene could be regarded as a relatively good indicator of risks in ALL children treated by CCLG-ALL-2008 protocol. ALL patients with TEL/AML1 are recommended to receive more intensive therapy including hematopoietic stem cell transplantation when the patients were high level of MRD on the 12th week after treatment. Related Articles | Metrics

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KCNT1 gene mutation associated epilepsy in infancy with migrating focal seizure in 3 cases LIU Kang, SUN Suzhen, PANG Lingyu, et al Journal of Clinical Pediatrics    2021, 39 (3): 196-.   DOI: 10.3969/j.issn.1000-3606.2021.03.008 Abstract （986）      PDF（pc） （1658KB）（316）       Knowledge map    Save Objective To explore the clinical and gene mutation characteristics of KCNT1 gene mutation associated epilepsy in infancy with migrating focal seizure. Methods The clinical data of KCNT 1 gene mutation associated epilepsy in infancy with migrating focal seizure in 3 children were retrospectively analyzed, and the related literature was reviewed. Results In 2 girls the age at onset was 3 months and at 6 months respectively. In 1 boy the age at onset was 2 months. All the 3 cases were onset with convulsions and diagnosed as new missense mutations of KCNT 1 gene by genetic test, which were respectively c. 862 G>A(p.Gly 288 Ser), c. 2813 A>G (p.Tyr 938 Cys), and c. 1283 G>A(p.Arg 428 Gln). The head magnetic resonance imaging of 2 cases was normal, while 1 case showed delayed myelination and thin knee of corpus callosum. VideoEEG showed focal status epilepticus in 2 cases, of which 1 case had hypsarrhythmia. All the 3 cases were treated with various antiepileptic drugs, but seizures failed to be effectively controlled, and cases appeared motor retardation and even regression. Conclusion KCNT 1 may be the main pathogenic gene of EIMFS,and leads to early onset of epilepsy often accompanied by developmental retardation, poor response to multi-antiepileptic drugs and poor prognosis. Related Articles | Metrics

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Case report and literature review of two cases of NBAS gene deficiency in a family WU Feifei, CUI Dong, HU Yuhui, et al Journal of Clinical Pediatrics    2020, 38 (5): 339-.   DOI: 10.3969/j.issn.1000-3606.2020.05.006 Abstract （977）      PDF（pc） （1925KB）（308）       Knowledge map    Save Objective　To investigate the pathogenesis, clinical features, diagnosis and treatment of diseases caused by NBAS gene deficiency. Methods　Retrospectively analyze the clinical features, laboratory tests, genetic diagnosis, treatments and prognosis of two children with NBAS gene deficiency. Results　The proband is a 14 years and 6-months old boy, and his younger sister is 7-years and 11-months old. Both patients have progeroid face, optic atrophy, achromatopsia, short stature, liver dysfunction, hyperammonemia and hyperlactemia. Blood smear staining suggested abnormal Pelger-Hu?t granulocytes. The gene detection showed both the proband and his younger sister had c.5752A>C and c.1599+1G>C compound heterozygous mutations in NBAS gene inherited from their parents. c.5752A>C was already reported while c.1599+1G>C is a novel splicing mutation. Even without special treatment, the liver function of both patients has improved significantly with age. Conclusions　NBAS gene deficiency is a rare disease affecting optic nerves, liver and skeletal system. Patients mainly presented with progeroid face, optic atrophy, short stature and hepatic dysfunction. Genetic analysis was helpful for diagnosis. Currently, there is no specific treatment of this disease, and usually symptomatic treatment was applied. Related Articles | Metrics

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Diagnosis and treatment of hemorrhagic cystitis after hematopoietic stem cell transplantation HE Yunyan Journal of Clinical Pediatrics    2022, 40 (1): 8-.   DOI: 10.12372/jcp.2022.21e1628 Abstract （971）      PDF（pc） （1327KB）（939）       Knowledge map    Save Hemorrhagic cystitis (HC) is one of the common complications of allogeneic hematopoietic stem cell transplantation, which is the key point of transplantation prevention and treatment. This article introduces the etiology, pathogenesis, prevention and treatment of HC. The occurrence of HC is often related to the toxicity of high-dose radiotherapy and chemotherapy before transplantation, gene polymorphism of drug metabolism enzyme, viral infection, graft-versus-host disease, patient age, sex, donor type and transplantation method. Diagnosis of HC is not difficult, based on the history, typical clinical manifestations, and necessary auxiliary tests. Effective preventive measures are adequate hydration and alkalization of urine, diuresis and the application of Mesna. The treatment mainly includes antiviral therapy, immunotherapy, bladder irrigation, bladder perfusion, hyperbaric oxygen therapy and surgical treatment. Related Articles | Metrics

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A case of early-onset epileptic encephalopathy caused by CDKL5 gene mutation ZHONG Yi, SHU Xiaomei Journal of Clinical Pediatrics    2020, 38 (11): 814-.   DOI: 10.3969/j.issn.1000-3606.2020.11.003 Abstract （962）      PDF（pc） （1309KB）（188）       Knowledge map    Save Objective To investigate the clinical and genetic characteristics of CDKL5 gene mutation-associated with early-onset epileptic encephalopathy. Methods The clinical characteristics and genetic variation of CDKL 5 gene mutation in a baby boy with early-onset epileptic encephalopathy were analyzed. Results On the 30th day after birth, the children began to have a variety of forms of seizures, such as tonia, spasm, myoclonus, and accompanied by a significant waking athetosis. The child was treated with a combination of antiepileptic drugs with poor efficacy, which resulted in refractory spasmodic seizures, severe developmental delay and language and motor delay. Gene examination revealed a de novo c. 416 A>G (p.Glu 139 Gly) missense mutation in CDKL 5 gene, which has not been reported. Conclusion In this paper, the mutation spectrum of CDKL 5 was expanded (c.416 A>G), which could lead to severe early-onset epileptic encephalopathy in male children. Related Articles | Metrics