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Updated: Nov 20, 2025
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]
Mei-Juan Wang1, Xue-Mei Zhong1, Xin Ma1
1Department of Gastroenterology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.
Insights
Genetic analysis identified pathogenic variants in 32% of infants with intrahepatic cholestasis, revealing diverse genetic causes. Next-generation sequencing aids in diagnosing this complex infantile liver disease.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Hepatology
Background:
- Infantile intrahepatic cholestasis presents complex clinical and genetic challenges.
- Accurate diagnosis is crucial for effective management and prognosis.
Purpose of the Study:
- To investigate the clinical features and genetic underpinnings of infantile intrahepatic cholestasis.
- To evaluate the utility of next-generation sequencing in diagnosing these conditions.
Main Methods:
- Retrospective analysis of clinical data from 40 pediatric patients suspected of inherited metabolic diseases.
- Next-generation sequencing (NGS) for targeted gene panel analysis.
- Sanger sequencing for family member verification.
Main Results:
- Pathogenic variants were found in 13 out of 40 patients (32%).
- Identified genetic causes include citrin deficiency (SLC25A13), Alagille syndrome (JAG1), progressive familial intrahepatic cholestasis type 2 (ABCB11), congenital bile acid synthesis defects (HSD3B7, AKR1D1), Niemann-Pick disease (NPC1), and cystic fibrosis (CFTR).
Conclusions:
- The genetic etiology of infantile intrahepatic cholestasis is diverse and complex.
- Next-generation sequencing is a valuable tool for diagnosing infantile intrahepatic cholestasis, enabling identification of various genetic disorders.
Objective:
To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis.
Methods:
The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family.
Results:
Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including SLC25A13 gene variation in 3 patients who were diagnosed with citrin deficiency, JAG1 gene variation in 3 patients who were diagnosed with Alagille syndrome, ABCB11 gene variation in 3 patients who were diagnosed with progressive familial intrahepatic cholestasis type 2, HSD3B7 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, AKR1D1 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, NPC1 gene variation in 1 patient who was diagnosed with Niemann-Pick disease, and CFTR gene variation in 1 patient who was diagnosed with cystic fibrosis.
Conclusions:
The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.
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