Analysis of the ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis Patients: A Preliminary Report

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 ...

A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.

BACKGROUND Progressive familial intrahepatic cholestasis has been only infrequently reported from India. CASE CHARACTERISTICS An Indian girl with progressive cholestatic liver disease beginning during infancy, normal gamma-glutamyl transpeptidase levels, parental consanguinity, positive family history and a fatal outcome. OBSERVATION A novel, homozygous mutation (c.[589_592inv;592_593insA])...

Progressive Familial Intrahepatic Cholestasis

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 ...

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

Class III multidrug resistance (MDR) P-glycoproteins (P-gp), mdr2 in mice and MDR3 in man, mediate the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte. Mice with a disrupted mdr2 gene completely lack biliary phospholipid excretion and develop progressive liver disease, characterized histologically by portal inflammation, proliferation of the bile duct epit...