Familial intrahepatic cholestasis - An uncommon cause of jaundice in young patients.

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders resulting from mutations in genes involved in bile secretion, characterized by chronic cholestasis. The onset is typically in early childhood, with main clinical manifestations including jaundice, pruritus, and symptoms related to malabsorption, which can rapidly progress to liver failure. We present a...

Topics

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• Cholestasis, Intrahepatic
• Jaundice
• Mutation