Progressive familial intrahepatic cholestasis (PFIC), originally described as ‘‘Byler disease'' in an Amish kindred, has been distinguished from other forms of cholestatic liver disease in childhood by clinical findings, laboratory observations, and morphologic studies in biopsy, hepatectomy, and autopsy specimens. PFIC is an inherited disorder of childhood in which cholestasis of hepatocellular origin often presents in early infancy and childhood, progresses to cirrhosis within the first decade of life, and leads to death from liver failure at ages ranging from infancy to childhood. Recent molecular and genetic studies have identified genes responsible for three types of PFIC. Liver transplantation is a curative modality of treatment in this disease. Ursodeoxycholic acid (UDCA) and partial external biliary diversion may represent alternatives to liver transplantation.

Keywords: ailevi, çocukluk çağı, intrahepatik kolestaz, familial, intrahepatic cholestasis, childhood