A Report of 2 Infant Siblings with Progressive Intrahepatic Familial Cholestasis Type 1 and a Novel Homozygous Mutation in the ATP8B1 Gene Treated with Partial External Biliary Diversion and Liver Transplant
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چکیده
منابع مشابه
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...
متن کاملA 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])...
متن کاملPartial 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...
متن کاملClinical 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...
متن کاملIntrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in it...
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ژورنال
عنوان ژورنال: American Journal of Case Reports
سال: 2021
ISSN: 1941-5923
DOI: 10.12659/ajcr.932374