Recurrent familial intrahepatic cholestasis in the faeroe islands. phenotypic heterogeneity but genetic homogeneity

  title={Recurrent familial intrahepatic cholestasis in the faeroe islands. phenotypic heterogeneity but genetic homogeneity},
  author={Niels Tygstrup and Bjarni {\'A}. Steig and Jenneke A. Juijn and Laura N. Bull and Roderick H. J. Houwen},
Recurrent familial intrahepatic cholestasis is an autosomal recessive disorder characterized by episodes of severe pruritus and jaundice lasting for weeks to months without extrahepatic bile duct obstruction. Symptom‐free intervals may last for months to years, and chronic liver damage does not develop. We recently studied four of the five patients from the Faeroe Islands described by us 30 years ago (one had recently died) and an additional five patients that were identified after the initial… 
Progressive Familial Intrahepatic Cholestasis: An Update
  • A. Knisely
  • Medicine
    Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • 2004
The description of other cholestatic disorders as the background against which PFIC must be considered and the historical sketch of how the concept of PFIC evolved to describe a category of disease remain substantially valid.
Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene
The case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation is presented, and this is the first report of BRIC with a confirmed single heterozygote novel mutation inThe ATP8 B1 gene in Korea.
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
Mutations in ABCB11 are associated with BRIC, and consistent with the genetic classification of PFIC into 2 subtypes, it is proposed that this disorder be named BRIC type 2.
Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1
Pancreatic secretion in the study patients with progressive familial intrahepatic cholestasis type 1 was normal and the observed steatorrhea was not related to pancreatic insufficiency.
Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature.
BRIC is potentially triggered by infection, hormonal disturbances as seen in oral contraceptive pills and pregnancy state, and less commonly by certain drugs and other causes, and the appearance of cholestasis during the first two trimesters of pregnancy compared to intrahepatic cholESTasis of pregnancy could help to differentiate between the two conditions.
Cholestasis Due to USP53 Deficiency
Two groups recently identified patients with liver disease and mutation in USP53 in 7 further patients with cholestasis, from 5 families, have now been identified.
PERSPECTIVES IN PEDIATRIC PATHOLOGY: Progressive Familial Intrahepatic Cholestasis: A Personal Perspective
Two types of PFIC now are recognized: PFIC-1, resulting from mutations in a gene called FIC1 (familial intrahepatic cholestasis, type 1), andPFIC-2, resulting in mutations inA gene called BSEP (bile salt export pump).
Liver transplantation and the management of progressive familial intrahepatic cholestasis in children.
The role and timing of liver transplantation still remains debated especially in the management of PFIC1, but in those patients who are appropriately selected, liver transplation offers an excellent survival benefit.


Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands.
Clinical and biochemical findings in five patients from the Faroe Islands with intermittent intrahepatic cholestasis of unknown etiology are described, and it is conjectured that the pathogenesis is a defect in bile acid metabolism.
Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64
The linkage analysis of an expanded sample of 14 BRIC families is reported, using 15 microsatellite markers from the 18q21 region, and one family is identified in which the BRIC gene seems to be unlinked to the 18 QT20 region, or that represents incomplete penetrance of theBRIC genotype.
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.
A large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance, is described, suggesting BRIC is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage.
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
This gene, called FIC1, is the first identified human member of a recently described subfamily of P-type ATPases; ATP-dependent aminophospholipid transport is the previously described function of members of this subfamily.
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
Electrophysiological studies on mice with prolonged survival show that the partial rectification of Cl− and Na+ ion transport abnormalities can be explained in part by up-regulation of a calcium-activated Cl− conductance.
A comprehensive genetic map of the human genome based on 5,264 microsatellites
The last version of the Généthon human linkage map is reported, which consists of 5,264 short tandem repeat polymorphisms with a mean heterozygosity of 70%.
A simple salting out procedure for extracting DNA from human nucleated cells.
A rapid, safe and inexpensive method was developed to simplify the deprotein-ization procedure that yielded quantities comparable to those obtained from phenol-chloroform extractions, rendering the entire process of RFLP analysis free of toxic materials.