Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3

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 ...

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])...

Pancreatic 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...