Congenital biliary atresia caused by GPC1 gene mutation in Chinese siblings: A case report

Congenital biliary atresia (CBA) is a serious hepatobiliary disease in children with unknown etiology. Its outcome is often liver transplantation or death. Clarifying the etiology of CBA is of great significance for prognosis, treatment, and genetic counseling. A male Chinese infant at an age of 6 m...

Full description

Saved in:
Bibliographic Details
Published in:World journal of clinical cases 2023-01, Vol.11 (3), p.629-634
Main Authors: Kong, Yuan-Mei, Yuan, Ke, Wang, Chun-Lin
Format: Article
Language:English
Subjects:
Case Report
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Congenital biliary atresia (CBA) is a serious hepatobiliary disease in children with unknown etiology. Its outcome is often liver transplantation or death. Clarifying the etiology of CBA is of great significance for prognosis, treatment, and genetic counseling. A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of "yellow skin for more than 6 mo". Soon after birth, the patient developed jaundice, which then progressively intensified. A "laparoscopic exploration" indicated "biliary atresia". After coming to our hospital, genetic testing suggested a mutation [loss 1 (exons 6-7)]. The patient recovered and was discharged after living donor liver transplantation. After discharge, the patient was followed up. The condition was controlled by oral drugs, and the patient's condition was stable. CBA is a complex disease with a complex etiology. Clarifying the etiology is of great clinical importance for treatment and prognosis. This case reports CBA caused by a mutation, which enriches the genetic etiology of biliary atresia. However, its specific mechanism needs to be confirmed by further research.
ISSN:2307-8960
2307-8960
DOI:10.12998/wjcc.v11.i3.629