Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 26, 2023; 11(3): 629-634
Published online Jan 26, 2023. doi: 10.12998/wjcc.v11.i3.629
Congenital biliary atresia caused by GPC1 gene mutation in Chinese siblings: A case report
Yuan-Mei Kong, Ke Yuan, Chun-Lin Wang
Yuan-Mei Kong, Ke Yuan, Chun-Lin Wang, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, Hangzhou 310003, Zhejiang Province, China
Author contributions: Kong YM and Wang CL conceived and designed the study; Kong YM provided clinical research; Kong YM wrote the paper; Kong YM, and Yuan K reviewed and edited the manuscript; All authors read and approved the manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors declare that they have no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chun-Lin Wang, PhD, Chief Doctor, Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, No. 79 Qingchun Road, Hangzhou 310003, Zhejiang Province, China. hzwangcl@zju.edu.cn
Received: July 18, 2022
Peer-review started: July 18, 2022
First decision: October 17, 2022
Revised: October 21, 2022
Accepted: December 9, 2022
Article in press: December 9, 2022
Published online: January 26, 2023
Processing time: 192 Days and 4.8 Hours
Abstract
BACKGROUND

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.

CASE SUMMARY

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 GPC1 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.

CONCLUSION

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 GPC1 mutation, which enriches the genetic etiology of biliary atresia. However, its specific mechanism needs to be confirmed by further research.

Keywords: Congenital biliary atresia; Jaundice; Etiology; GPC1; Liver transplantation; Case report

Core tip: Congenital biliary atresia (CBA) often results in a poor prognosis. Most patients need liver transplantation as the final treatment. If the opportunity for liver transplantation is missed, death often occurs. However, the etiology of CBA is still unclear. Clarifying the etiology is of great significance for prognosis, treatment, and genetic counseling. Through the report of a patient with a GPC1 mutation, this paper enriches the genetic etiology of CBA and provides a new basis for clinical and scientific research.