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Titolo:
Genetic cholestasis: Lessons from the molecular physiology of bile formation
Autore:
Jansen, PLM; Muller, M;
Indirizzi:
Univ Groningen Hosp, Div Gastroenterol & Hepatol, NL-9713 GZ Groningen, Netherlands Univ Groningen Hosp Groningen Netherlands NL-9713 GZ ningen, Netherlands
Titolo Testata:
CANADIAN JOURNAL OF GASTROENTEROLOGY
fascicolo: 3, volume: 14, anno: 2000,
pagine: 233 - 238
SICI:
0835-7900(200003)14:3<233:GCLFTM>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL INTRAHEPATIC CHOLESTASIS; DUBIN-JOHNSON SYNDROME; CONJUGATE EXPORT PUMP; HEPATOCYTE CANALICULAR ISOFORM; MULTIDRUG-RESISTANCE PROTEIN; URSODEOXYCHOLIC ACID THERAPY; INBORN-ERRORS; MUTANT RATS; ORAL-CONTRACEPTIVES; EXCRETORY DEFECT;
Keywords:
bile; bile salt export pump; cholestasis; Dubin-Johnson syndrome; P-glycoprotein; progressive familial intrahepatic cholestasis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Jansen, PLM Univ Groningen Hosp, Div Gastroenterol & Hepatol, Hanzeplein 1, NL-9713 GZGroningen, Netherlands Univ Groningen Hosp Hanzeplein 1 Groningen Netherlands NL-9713 GZ
Citazione:
P.L.M. Jansen e M. Muller, "Genetic cholestasis: Lessons from the molecular physiology of bile formation", CAN J GASTR, 14(3), 2000, pp. 233-238

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in PFIC type 3, the serum GGT activity is elevated. PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 andchromosome 2, respectively. The pathophysiology of PFIC type 1 is not wellunderstood. PFIC types 2 and 3 are caused by transport defects in the liver affecting the hepatobiliary secretion of bile acids and phospholipids, respectively. Benign recurrent intrahepatic cholestasis (BRIC) is linked to amutation in the same familial intrahepatic cholestasis 1 locus at chromosome 18. Defects of bile acid synthesis may be difficult to differentiate from these transport defects. Intrahepatic cholestasis of pregnancy (ICP) appears to be related to thesecholestatic diseases. For example, heterozygosity in families with PFIC type 3 is associated with ICP, but ICP has also been reported in families with BRIC. In Dubin-Johnson syndrome there is no cholestasis; only the hepatobiliary transport of conjugated bilirubin is affected. This, therefore, is a mild disease, and patients have a normal lifespan.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 14:36:41