Familial intrahepatic cholestasis 1: Studies of localization and function

Progressive Familial Intrahepatic Cholestasis

Severe 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...

Progressive 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 ...

Familial 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...

Genetic basis of progressive familial intrahepatic cholestasis.

oo~~ssrvn familial intrahepatic cholestasis (PFIC), P originally known as Byler disease, was first described in an Amish kindred (1,2). It is an inherited disorder of childhood in which cholestasis of hepatocellular origin often presents in the neonatal period or the first year of life and leads to death from liver failure at ages ranging from infancy to adolescence. Cholangiograms show normal ...