Title: Genetics of biliary atresia: approaches, pathological insights and challenges
Source: Seminars in Pediatric Surgery 2025, 33 (6): 151477
Date of publication: January 2025
Publication type: Review article
Abstract: Biliary atresia (BA) is a severe neonatal cholestatic disorder marked by fibro-obliteration of the extrahepatic and intrahepatic bile ducts. It is the most common cause of pediatric end-stage liver disease and the leading indication for liver transplantation in children. There is significant heterogeneity in the etiology, involving various genetic and environmental factors such as viral infection, immune dysregulation and genetic predisposition to defective hepatobiliary development. In this review, we discuss the strategies to uncover the genetic factors underlying BA and highlight their associated molecular and pathological mechanisms, as well as the challenges faced in this area of research.
