Heritable disorders of the bile ducts

Diseases of the bile ducts encompass a wide range of disorders. These include those disorders primarily affecting extra and intrahepatic bile ducts and those that may be classified as panbiliary. A simple classification of bile duct disorders is represented in Box 1. This discussion focuses on heritable disorders of the bile ducts. For a discussion of so-called "isolated" or "sporadic" cystic and other bile duct disorders, the reader is referred elsewhere. As can be seen in Box 1, the major heritable bile duct disorders are those affecting the intrahepatic ducts, namely syndromic bile duct paucity, or Alagille syndrome (AGS), and the fibrocystic cholangiopathies autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis (CHF), and autosomal dominant polycystic kidney disease (ADPKD). Therefore the remainder of the article will be limited to discussion on intrahepatic biliary disease.