Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis

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...

Partial Internal Biliary Diversion in Progressive Familial Intrahepatic Cholestasis: Introduction of a New Approach

INTRODUCTION Facilitation of biliary salts secretion represents the mainstay of treatment for progressive familial intrahepatic cholestasis (PFIC). The purpose of this study was to introduce a new approach for the treatment of progressive familial intrahepatic cholestasis (PFIC) to avoid ostoma. CASE PRESENTATION An 11-year-old girl with the diagnosis of PFIC underwent cholecystoappendicostom...

Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency.

OBJECTIVES Familial intrahepatic cholestasis 1 (FIC1) deficiency is caused by a mutation in the ATP8B1 gene. Partial external biliary diversion (PEBD) is pursued to improve pruritus and arrest disease progression. Our aim is to describe clinical variability after PEBD in FIC1 disease. METHODS We performed a single-center, retrospective review of genetically confirmed FIC1 deficient patients w...

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 ...