A Case of Familial Intrahepatic Cholestasis
نویسندگان
چکیده
منابع مشابه
Progressive Familial Intrahepatic Cholestasis - A Case Report
Introduction Progressive familial intrahepatic cholestasis (PFIC) represents a group of disorders which usually begin in the first months of life and progress to cirrhosis before the end of second decade. The disease occurs due to a defect in bile acid transport leading to cholestasis and resultant hepatocelluler injury1-3. Recent molecular and genetic studies have identified genes responsible ...
متن کاملSevere familial intrahepatic cholestasis.
Odievre, M., Gautier, M., Hadchouel, M., and Alagille, D. (1973). Archives of Disease in Childhood, 48, 806. Severe familial intrahepatic cholestasis. Five cases of intrahepatic cholestasis are reported in 4 families in which 7 other children have had the same disease. Cholestasis, beginning before the age of one year, is notable for the absence of lipid retention, evolving by attacks brought o...
متن کاملProgressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and associated with mutations ...
متن کاملFamilial Intrahepatic Cholestasis: An Update
Familial intrahepatic cholestasis is a confusing group of syndromes. Four forms are defined and discussed in detail ("arteriohepatic dysplasia," the Byler syndrome, the THCA syndrome, and Norwegian cholestasis). A comparison of the distinguishing characteristics of these syndromes demonstrates that they share many features, including areflexia, retinal degeneration, and paucity of the intrahepa...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 1968
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.94.293