Çocuk Sağlığı ve Hastalıkları Dergisi 2005 , Vol 48 , Num 4
Cholestatic disorder of childhood with diagnostic dilemma: progressive familial intrahepatic cholestasis
Gökhan Tümgör1, Çiğdem Arıkan1, Sema Aydoğdu2
1Ege Üniversitesi Tıp Fakülesi, Pediatri Uzmanı
2Ege Üniversitesi Tıp Fakülesi, Pediatri Profesörü
Tümgör G, Arıkan Ç, Aydoğdu S. (Department of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey). Cholestatic disorder of childhood with diagnostic dilemma: progressive familial intrahepatic cholestasis. Çocuk Sağlığı ve Hastalıkları Dergisi 2005; 48: 355-360.

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. Anahtar Kelimeler : ailevi, çocukluk çağı, intrahepatik kolestaz, familial, intrahepatic cholestasis, childhood

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