Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters
نویسندگان
چکیده
منابع مشابه
A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters
Progressive familial intrahepatic cholestasis or PFIC is a general term used to describe a group of genetic disorders involving the hepatocanalicular transporters. These diseases are characterized by persistent cholestasis, pruritus and jaundice. Type I PFIC is characterized by defect in the gene that codes for aminophospholipid translocase protein and maintains canalicular membrane stability. ...
متن کاملGenetic 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 ...
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 کاملHepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis.
UNLABELLED Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude other causes of neonatal cholestasis. The aim of this study was to evaluate liver tissue immunohistochemistry of bile salt export p...
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ژورنال
عنوان ژورنال: Journal of Gastroenterology and Hepatology
سال: 2005
ISSN: 0815-9319
DOI: 10.1111/j.1440-1746.2005.03743.x