Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters

@article{Harris2005ProgressiveFI,
  title={Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters},
  author={Matthew J Harris and David G. Le Couteur and Irwin M. Arias},
  journal={Journal of Gastroenterology and Hepatology},
  year={2005},
  volume={20}
}
Progressive familial intrahepatic cholestasis types 1, 2 and 3 are childhood diseases of the liver. Benign recurrent intrahepatic cholestasis is predominantly an adult form with similar clinical symptoms that spontaneously resolve. These genetic disorders have significantly helped to unravel the basic mechanisms of the canalicular bile transport processes. Progressive familial intrahepatic cholestasis type 1 involves a gene also linked to benign recurrent intrahepatic cholestasis. The gene… 
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Progressive familial intrahepatic cholestasis.
Progressive Familial Intrahepatic Cholestasis
TLDR
Progressive familial intrahepatic cholestasis (PFIC) is a progressive disorder that affects children and may present with jaundice in the first weeks of life, or may appear after several months.
Progressive familial intrahepatic cholestasis.
  • E. Jacquemin
  • Medicine, Biology
    Clinics and research in hepatology and gastroenterology
  • 2012
Progressive familial intrahepatic cholestasis
TLDR
Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis, and most PFIC patients are ultimately candidates for liver transplantation.
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2
TLDR
This work aimed to make the prenatal diagnosis of PFIC2, a progressive familial intrahepatic cholestasis type 2 results from genetic defects of the hepatobiliary bile salt export pump (BSEP, ABCB11).
Progressive familial intrahepatic cholestasis.
TLDR
Since the etiologies and disease mechanisms of PFIC are still unclear, detailed studies are urgently required, and strategies for more advanced therapies are also needed.
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
TLDR
Investigation of a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum gamma-glutamyltransferase, established the diagnosis of PFIC type 2, caused by mutations in ABCB11, which encodes bile salt export pump.
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.It can be categorizated three types by…
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
TLDR
To determine the underlying molecular etiology of PFIC, 80 patients from 77 families were investigated and the molecular genetic diagnosis was applied by using next‐generation sequencing (NGS) and revealed 29 different variants from 32 patients, which were evaluated according to mechanisms, clinical sub‐groups, and genotype‐phenotype correlation.
Dental management of a patient with progressive familial intrahepatic cholestasis
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References

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TLDR
Loss of familial intrahepatic cholestasis-1 leads to diminished nuclear translocation of the FXR, with the subsequent potential for pathologic alterations in intestinal and hepatic bile acid transporter expression.
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
TLDR
Data provide evidence that SPGP is the human bile salt export pump (BSEP), and the product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro.
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TLDR
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TLDR
FIC1 disease collectively refers to a group of autosomal-recessive familial liver disorders characterized by intrahepatic cholestasis due to mutations in the ATP8B1 gene (initially named FIC1), and is viewed as two ends of a continuum.
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TLDR
Both surgical methods of therapy of PFIC, PEBD and OLTx, resulted in an 80% success rate and therefore should be used as complementary therapies and in patients before established liver cirrhosis,PEBD should be the first choice of treatment.
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TLDR
Linkage analysis was undertaken in five consanguineous PFIC pedigrees from Saudi Arabia using marker loci which span the Byler disease/BRIC region on 18q21-q22, showing that locus heterogeneity exists for the PFIC phenotype.
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A locus for progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, has been mapped to a 19 cM region of chromosome 18 by a search for shared segments, using patients from…
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