Diseases of the Biliary Tree

Diseases of the biliary tree in infancy and childhood can be divided into those involving the extrahepatic biliary tree and those involving the intrahepatic biliary system. The former group of disorders includes biliary atresia, the most common single cause of neonatal cholestasis and the most common reason for liver transplantation in children worldwide. Biliary atresia is usually the focus of the clinical evaluation of the cholestatic infant, and the first portion of this chapter will thus outline the evaluation of jaundice in infancy. Other disorders of the extrahepatic biliary tree include absence or duplication of the biliary system and other congenital disorders such as choledochal cysts and neonatal sclerosing cholangitis. Acquired disorders include primary and secondary sclerosing cholangitis, biliary strictures and perforation of bile ducts. Disorders of the intrahepatic biliary tree are dominated by Alagille syndrome, manifesting principally as paucity of bile ducts, and its differential diagnosis, including metabolic disorders such as alpha-1 antitrypsin deficiency and drug-induced vanishing bile duct syndrome. Intrahepatic familial cholestatic diseases, an emerging and expanding group of genetic cholestatic disorders, are discussed in another chapter in this volume.