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

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 gene variation in 3 patients who were diagnosed with citrin deficiency, gene variation in 3 patients who were diagnosed with Alagille syndrome, gene variation in 3 patients who were diagnosed with progressive familial intrahepatic cholestasis type 2, gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, gene variation in 1 patient who was diagnosed with Niemann-Pick disease, and 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.