Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis. 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. 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. The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.

Citation

Mei-Juan Wang, Xue-Mei Zhong, Xin Ma, Hui-Juan Ning, Dan Zhu, You-Zhe Gong, Meng Jin. Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2021 Jan;23(1):91-97

Mesh Tags

Substances

PMID: 33476544

search → result