Biliary atresia (BA) is a neonatal disorder characterized by progressive fibro-obliterative ascending disease of the extrahepatic and intrahepatic biliary tree that leads to biliary obstruction. BA is a rare cause of neonatal jaundice, estimated in approximately 1/15 000 live births, and can be identified as an isolated congenital defect or as part of a syndrome (in 10%-20% of cases). Although rare, BA is the most common reason for liver transplantation in children.

Patients present with jaundice, typically within the first 2 months of life, failure to thrive, lethargy, dark urine, and acholic stool. Most commonly, infants are born healthy and full-term but will have persistent hyperbilirubinemia and jaundice since birth. As the disease progresses, hepatomegaly, splenomegaly, altered mental status, and the sequelae of advanced liver disease can occur. Labs demonstrate elevations in bilirubin, alkaline phosphatase, and gamma glutamyl transferase (GGT).

The pathogenesis is not widely understood, but is likely a combination of genetic and environmental risk factors, in particular, potential immunogenic, viral, and/or toxin-mediated factors.

Successful management of BA requires early diagnosis and transfer to a pediatric liver transplantation center. Initially, a Kasai portoenterostomy will be done to restore adequate biliary outflow. Next, patients are bridged to liver transplantation, which is a curative intervention. Prognosis for patients who receive liver transplants is generally good. Early timing of the Kasai procedure is associated with improved outcomes.