Abstract
Progressive familial intrahepatic cholestasis is a group of diseases characterised by biliary cirrhosis and cholestasis. This disease begins in infancy and usually progresses to cirrhosis within the first decade of life. It has been distinguished from other forms of cholestatic liver diseases in childhood by clinical findings, laboratory observations, and morphologic studies. Recent molecular and genetic studies have identified the genes responsible for the three types. Type 3 is characterised by recurrent pruritus or jaundice and/or high serum gamma-glutamyl transferase levels. Liver transplantation is a curative modality of treatment in this disease. Ursodeoxycholic acid and partial external biliary diversion may represent alternatives to liver transplantation. In this paper, we presented a 2-month-old male patient who admitted to our hospital because of jaundice, diagnosed as progressive familial intrahepatic cholestasis type 3, and treated with ursodeoxycholic acid
Keywords: Childhood, familial intrahepatic cholestasis, GGT, PFIC
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