Liver and biliary disease in infancy

Liver disease in infancy is rare but serious. A major sign is conjugated hyperbilirubinaemia, with pale stools and dark urine. A prompt diagnosis of the underlying cause is essential for appropriate treatment. Aetiologies include infections, inherited metabolic diseases and surgically correctable conditions. Of the latter the most important is biliary atresia that needs to be treated by Kasai portoenterostomy as early as possible for best results. The present chapter concentrates on the management of cholestasis and on the description of some of the most important causes of infantile liver disease, including biliary atresia, α1-antitrypsin deficiency, progressive intrahepatic cholestasis, parenteral nutrition-associated cholestasis and Alagille syndrome.