Progressive Familial Intrahepatic Cholestasis (PFIC) Type 3 in Two Sicilian Siblings of Nonconsanguineous Parents
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منابع مشابه
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 ...
متن کاملA 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 کاملPancreatic adenocarcinoma in type 2 progressive familial intrahepatic cholestasis
BACKGROUND BSEP disease results from mutations in ABCB11, which encodes the bile salt export pump (BSEP). BSEP disease is associated with an increased risk of hepatobiliary cancer. CASE PRESENTATION A 36 year old woman with BSEP disease developed pancreatic adenocarcinoma at age 36. She had been treated with a biliary diversion at age 18. A 1.7 x 1.3 cm mass was detected in the pancreas on ab...
متن کاملLocus heterogeneity in progressive familial intrahepatic cholestasis.
Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic....
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ژورنال
عنوان ژورنال: The Scientific World JOURNAL
سال: 2010
ISSN: 1537-744X
DOI: 10.1100/tsw.2010.109