Disodium gadoxetate uptake in progressive familial intrahepatic cholestasis type I: Enhancing our understanding of the cholestatic disease

Disodium gadoxetate uptake in progressive familial intrahepatic cholestasis type I: Enhancing our understanding of the cholestatic disease

Hepatocyte-specific magnetic resonance imaging (MRI) contrast agents are commonly used to depict anatomic hepatobiliary lesions and are also useful in characterizing the kinetics of hepatocyte uptake and excretion. We report a case of a 13-year old female with progressive familial intrahepatic cholestasis (PFIC) type 1 who demonstrated decreased uptake and excretion of gadoxetate disodium contr...

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 ...

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...

Locus 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....