Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis.
- Author:
Mei-Juan WANG
1
;
Xue-Mei ZHONG
1
;
Xin MA
1
;
Hui-Juan NING
1
;
Dan ZHU
1
;
You-Zhe GONG
1
;
Meng JIN
1
Author Information
1. Department of Gastroenterology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China.
- Publication Type:Journal Article
- MeSH:
Alagille Syndrome/genetics*;
Child;
Cholestasis, Intrahepatic/genetics*;
Citrullinemia;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Mitochondrial Membrane Transport Proteins;
Mutation
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(1):91-97
- CountryChina
- Language:Chinese
-
Abstract:
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
CONCLUSIONS:The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.
