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.
Q44.2 – Atresia of bile ducts
77480004 – Congenital biliary atresia
Differential Diagnosis & Pitfalls
- Choledochal cysts
- Alagille syndrome
- Idiopathic neonatal hepatitis
- Lipid storage disorders (eg, Gaucher disease type 2, Niemann-Pick disease, Farber lipogranulomatosis, GM1 gangliosidosis)
- Neonatal hemochromatosis
- Inborn errors of bile acid synthesis
- Viral infections (TORCH)
- Alpha-1 antitrypsin deficiency
- Congenital syphilis
- Cystic fibrosis