A5046924718- Pediatric Hepatobiliary Diseases and Treatments
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Neonatal Health and Biochemistry
- Trace Elements in Health
- Glycosylation and Glycoproteins Research
- Drug Transport and Resistance Mechanisms
- Digestive system and related health
- Heavy Metal Exposure and Toxicity
- Gallbladder and Bile Duct Disorders
- Lysosomal Storage Disorders Research
- Carbohydrate Chemistry and Synthesis
- Liver Diseases and Immunity
- RNA modifications and cancer
- Hemoglobinopathies and Related Disorders
- Genetic and Kidney Cyst Diseases
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Liver Disease Diagnosis and Treatment
- Genomics and Rare Diseases
- Amino Acid Enzymes and Metabolism
- Glycogen Storage Diseases and Myoclonus
- Infant Nutrition and Health
- Aluminum toxicity and tolerance in plants and animals
- Cytomegalovirus and herpesvirus research
Children's Hospital of Fudan University
2016-2025
Fudan University
2014-2020
Center for Digestive and Liver Diseases
2020
Pathogens that cause pediatric severe community-acquired pneumonia (SCAP) requiring bronchoscopy intervention are understudied. Through this study, we explore the etiology of SCAP form alveolar lavage fluid (ALF) samples by RespiFinder 2SMART multi-PCR assay.
Wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic if not diagnosed treated.The youngest child with normal liver function reported so far 8-mo-old Japanese boy low ceruloplasmin levels, the elevated aminotransferase ever a 9-mo-old Korean confirmed by genetic testing.Here we report Chinese presented enzymes, serum level.Genetic analysis ATP7B gene detected two heterozygous causing mutations (c.2621C>T/p.A874V...
Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which most frequently due to JAG1 mutations. This study investigated rate, spectrum, and origin of mutations 91 Chinese children presenting with at least two clinical features (cholestasis, heart murmur, skeletal abnormalities, ocular characteristic facial features, renal abnormalities). Direct sequencing and/or multiplex-ligation-dependent probe amplification were performed these...
Background For many children with intrahepatic cholestasis and high-serum gamma-glutamyl transferase (GGT) activity, a genetic aetiology of hepatobiliary disease remains undefined. We sought to identify novel genes mutated in idiopathic high-GGT cholestasis, clinical, histopathological functional correlations. Methods assembled cohort 25 undiagnosed without clinical features biliary-tract infection or radiological choledochal malformation, sclerosing cholangitis cholelithiasis. Mutations...
Background There is no official consensus regarding zinc therapy in pre-symptomatic children with Wilson Disease (WD); more data needed. Objective To investigate the safety and efficacy of gluconate for Chinese WD. Methods We retrospectively analyzed receiving a single center specialized pediatric hepatology. Short-term follow-up on were presented, effects different dosages compared. Results 30 (21 males) aged 2.7 to 16.8 years followed up 4.4 years; 26 (87%) had abnormal ALT at baseline....
Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring transplantation (LT) for decompensated biliary cirrhosis childhood.The information of four Chinese patients NSC caused by DCDC2 from Children's Hospital Fudan University were gathered. The patients' clinicopathological molecular features summarized clinical data, biopsy, immunohistochemical, genetic analysis.All presented jaundice,...
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) has high prevalence in East Asia, and been reported other parts of the world. NICCD is also most common form genetic among Asians. There reports mortalities or liver transplants associated with NICCD, but risk factors poor outcome were unknown. Our objective to report a tertiary pediatric hepatology center, explore along implications clinical practice. This retrospective analysis cases collected from June 2003 until...
To retrospectively analyze and quantitatively correlate UGT1A1 (bilirubin UDP- glucuronosyltransferase gene) genotypes unconjugated hyperbilirubinemia (UCH) phenotypes among Chinese children.We reviewed UCH patients, analyzed genotype-phenotype correlation by comparing with healthy controls. Pfam database, SWISS-model, Pymol were used for protein domain analysis modeling assessing the effect of novel missense variants on structure.Seventy four cases, including 21 prolonged (PUCH), 30 Gilbert...
Background Acute liver failure (ALF) can be a primary presentation of Wilson disease (WD). Mortality rates are high in WD with ALF (WDALF). Predictions mortality WDALF vary by model and sometimes contradictory, perhaps because few patients studied or diagnoses questionable. Aim To determine the outcomes among well-documented assess performance this cohort. Methods We reviewed medical records our pediatric (n = 41 over 6-years-old, single-center retrospective study) compared seven prognostic...
Transient infantile hypertriglyceridemia (HTGTI) is an autosomal recessive disorder caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. We report a case of HTGTI Chinese female infant. She presented with hepatomegaly, hypertriglyceridemia, moderately elevated transaminases, and hepatic steatosis at 3.5 months age. A novel mutation c.523C>T, p. (Q175*) was identified GPD1. The patient homozygote her parents were heterozygous for mutation. Ultrastructural study showed...
The typical phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome involves three cardinal symptoms as the name describes, harboring biallelic mutations on VPS33B or VIPAS39. Except for ARC syndrome, low gamma-glutamyltransferase (GGT) often implies hereditary hepatopathy different severity; however, some remain undiagnosed. Several monogenic defects typically with multiorgan manifestations may only present liver dysfunction at times, such DGUOK defect AGL defect....
Background and Aims Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But ranges GGT patients deficiency are unclear. This study tried to unravel features these that improve diagnostic efficiency. Methods enrolled 207 chronic who were ordered test and/or from January 2012 December 2015. Additional 17 ATPB81 diagnosed between 2004 2011 also this study. 600 population-matched children served as controls. Clinical data obtained by retrospectively...
Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in melanocortin 2 receptor (MC2R) gene, characterized low or undetectable serum cortisol level and high adrenocorticotropic hormone (ACTH) level. Clinical manifestations include hypoglycemia, seizure, skin hyperpigmentation, hyperbilirubinemia, cholestasis,and tall stature. Some dysmorphic features such as, prominent forehead, hypertelorism, broad nasal bridge, small tapering fingers, have...
Neuroblastoma amplified sequence (NBAS)-associated disease has a wide phenotypic spectrum, including infantile liver failure syndrome type 2 (ILFS2, OMIM #616483), short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) (OMIM #614800), combined phenotype overlapping ILFS2 SOPH syndrome. The mutation spectra of NBAS its genotype-phenotype correlation among Chinese were not clear.Clinical genetic data retrospectively collected from the medical charts patients biallelic mutations,...
Exome sequencing (ES) has identified biallelic kinesin family member 12 (KIF12) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES 4 with novel, KIF12 variants using the human GRCh38 reference sequence, remains incompletely annotated in older sequence GRCh37. A review these 21 reported found that presentation elevated serum transaminase...
The deoxyguanosine kinase (DGUOK) gene controls mitochondrial DNA (mtDNA) maintenance, and variation in the can alter or abolish anabolism of deoxyribonucleotides. A Chinese female infant, whose symptoms included weight stagnation, jaundice, hypoglycemia, coagulation disorders, abnormal liver function, multiple signals brain, died at about 10 months old. Genetic testing revealed a compound heterozygote alleles c.128T>C (p.I43T) c.313C>T (p.R105*) DGUOK gene. is novel variant located exon 1...
NFIA gene (OMIM*600727) has been shown to be associated with a syndrome of central nervous system malformations (corpus callosum and ventriculomegaly) or without urinary tract defects(BRMUTD) (OMIM#613735) low incidence. METHODS AND RESULTS: We presented the clinical data 3-month-old Chinese infant features such as thin corpus callosum, ventriculomegaly, development delay, dysmorphic (macrocephaly, hypertelorism, slightly pointed chin, broad forehead, large ears). Genomic DNA was extracted...
SLC35A2-CDG is a rare type of X-linked CDG with more than 60 reported cases. We retrospectively analyzed clinical phenotypes and SLC35A2 genotypes four cases from unrelated families Han ethnicity in China. All patients had infantile onset epilepsies that were completely or partly resistant to multiple anti-epileptic medications ketogenic diet. Three severe developmental delay. female carrying de novo deleterious mutations (NM_001042498.2) gene, including one canonical splice-site mutation...
Background: TMEM199-congenital disorder of glycosylation (TMEM199-CDG) is a rare autosomal recessive inherited disease characterized by chronically elevated serum transaminase, decreased ceruloplasmin, steatosis and/or fibrosis, TMEM199 mutation, reduced level protein, and abnormal protein glycosylation. Methods: The information Chinese patient with TMEM199-CDG in the Children's Hospital Fudan University was reviewed. patient's clinical, pathological, molecular features were obtained...
Alagille syndrome (ALGS) type 2 caused by mutations in NOTCH2 has genotypic and phenotypic heterogeneity. Diagnosis some atypical patients with isolated hepatic presentation could be missed.Using 2087 paediatric liver manifestations, allele frequencies, in-silico prediction, protein domains clinical features were analysed to define the pathogenicity of variants for diagnosis ALGS 2.Among significantly more absent gnomAD elevated γ-glutamyltransferase (GGT) (p = .041). Significantly which...