NDLI: Progressive familial intrahepatic cholestasis.

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Progressive familial intrahepatic cholestasis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Jacquemin, Emmanuel
Spatial Coverage	France
Description	Country affiliation: France Author Affiliation: Jacquemin E ( Pediatric Hepatology and Liver Transplantation Unit, and Reference Centre for Rare Liver Diseases, Bicêtre Hospital, AP-HP, 78 rue du général Leclerc, 94275 Le Kremlin-Bicêtre cedex, France. emmanuel.jacquemin@bct.aphp.fr)
Abstract	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 in hepatocellular transport-system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may arise later in infancy, in childhood or even during young adulthood. The main clinical manifestations include cholestasis, pruritus and jaundice. PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyltransferase (GGT) activity is normal in PFIC1 and PFIC2 patients, but is elevated in PFIC3 patients. Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due to defects in ATP8B1 encoding the FIC1 protein and in ABCB11 encoding bile salt export pump (BSEP) protein, respectively. Defects in ABCB4, encoding multidrug resistance 3 protein (MDR3), impair biliary phospholipid secretion, resulting in PFIC3. Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests to exclude other causes of childhood cholestasis. MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates for whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis may be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA) therapy should be initiated in all patients to prevent liver damage. In some PFIC1 and PFIC2 patients, biliary diversion may also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation. Monitoring of liver tumors, especially in PFIC2 patients, should be offered from the first year of life. Hepatocyte transplantation, gene therapy and specific targeted pharmacotherapy may represent alternative treatments in the future.
File Format	HTM / HTML
ISSN	22107401
Issue Number	Suppl 1
Volume Number	36
e-ISSN	2210741X
Journal	Clinics and Research in Hepatology and Gastroenterology
Language	English
Publisher	Elsevier
Publisher Date	2012-09-01
Publisher Place	France
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Hepatology Discipline Gastroenterology Atp-binding Cassette Transporters Genetics Adenosine Triphosphatases Cholestasis, Intrahepatic Diagnosis Mutation Biological Markers Blood Cholagogues And Choleretics Therapeutic Use Cholestasis Epidemiology Therapy Disease Progression France Genotype Humans Jaundice P-glycoproteins Deficiency Prevalence Prognosis Pruritus Treatment Outcome Ursodeoxycholic Acid Gamma-glutamyltransferase Journal Article Review
Content Type	Text
Resource Type	Article
Subject	Hepatology Gastroenterology

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Progressive familial intrahepatic cholestasis.

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