Biliary atresia is a rare condition where the bile ducts of an infant are progressively fibrosed and destroyed, leading to conjugated hyperbilirubinaemia, liver failure and death if not treated.

Causes of biliary atresia:

• Congenital (developmental)
• Inflammation
• genetic mutations - CFC1 gene (involved in the development of the left and right embryonic axis)

Likely a combination of genetic and environmental factors

PC

• Presents shortly after birth with (persistent) Jaundice
  • Signs of biliary obstruction (e.g, dark urine and chalky white stool)
• lasting more than 14 days in term babies and 21 days in premature babies.

Investigations

• Unconjugated and conjugated bilirubin levels
• Abdominal ultrasound reveals echogenic fibrosis
• A hepatic scintigraphy (technetium-99) radioisotope scan will highlight the liver (takes up the isotope) but poor excretion into the bowel (as the bile ducts connecting the liver and the gut have been destroyed)
• Definitive diagnosis of biliary atresia is confirmed with cholangiography, which will fail to show normal architecture of the biliary tree

Management

Surgery