Bile Acid Pool Dynamics in Progressive Familial Intrahepatic Cholestasis With Partial External Bile Diversion

 Hepatic 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...

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR),...

partial internal biliary diversion in progressive familial intrahepatic cholestasis: introduction of a new approach

discussion the cholecystojejunocolic anastomosis with intussuscepted valve surgery could be considered as a forthcoming approach in the treatment of intrahepatic cholestasis. case presentation an 11-year-old girl with the diagnosis of pfic underwent cholecystoappendicostomy with myotomy operation. because of anastomosis stricture, she was reoperated with cholecystojejunocolic anastomosis and in...

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 ...