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Titolo:
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis
Autore:
Rosmorduc, O; Hermelin, B; Poupon, R;
Indirizzi:
Hop St Antoine, Serv Hepatogastroenterol, Assistance Publ Hop Paris, F-75571 Paris, France Hop St Antoine Paris France F-75571 ubl Hop Paris, F-75571 Paris, France Hop St Antoine, Lab Commun Biol Mol Federat Biochim, Assistance Publ Hop Paris, F-75571 Paris, France Hop St Antoine Paris France F-75571 ubl Hop Paris, F-75571 Paris, France
Titolo Testata:
GASTROENTEROLOGY
fascicolo: 6, volume: 120, anno: 2001,
pagine: 1459 - 1467
SICI:
0016-5085(200105)120:6<1459:MGDIAW>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
URSODEOXYCHOLIC ACID THERAPY; P-GLYCOPROTEIN; BILIARY SLUDGE; ACUTE-PANCREATITIS; NATURAL-HISTORY; CHOLESTASIS; GALLSTONES; BILE; PREGNANCY; PHOSPHATIDYLCHOLINE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Rosmorduc, O Hop St Antoine, Serv Hepatogastroenterol, Assistance Publ HopParis, 184 Rue Faubourg, F-75571 Paris, France Hop St Antoine 184 Rue Faubourg Paris France F-75571 France
Citazione:
O. Rosmorduc et al., "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis", GASTROENTY, 120(6), 2001, pp. 1459-1467

Abstract

Background&Aims: Many studies indicate that gallstone susceptibility has genetic components, MDR3 is the phosphatidylcholine translocator across the hepatocyte canalicular membrane. Because phospholipids are a carrier and a solvent of cholesterol in hepatic bile, we hypothesized that a defect in the MDR3 gene could be the genetic basis for peculiar forms of cholesterol gallstone disease, in particular those associated with symptoms and cholestasis without evident common bile duct stone. Methods: We studied 6 adult patients with a peculiar form of cholelithiasis. MDR3 gene sequence was determined by reverse-transcription polymerase chain reaction amplification of mononuclear cell RNAs followed by direct sequencing, Hepatic bile was analyzedin 2 patients. Results: All patients shared the following features: at least 1 episode of biliary colic, pancreatitis, or cholangitis; biochemical evidence of chronic cholestasis; recurrence of symptoms after cholecystectomy; presence of echogenic material in the intrahepatic bile ducts; and prevention of recurrence by ursodeoxycholic acid therapy. Hepatic bile composition showed a high chotesterol/phospholipid ratio and cholesterol crystals. Inall patients, we found MDR3 gene mutations involving a conserved amino acid region. Conclusions: These preliminary observations suggest that MDR3 gene mutations represent a genetic factor involved in this peculiar form of cholesterol gallstone disease in adults. They require further studies to assess the prevalence of MDR3 gene defects in symptomatic and silent cholesterol gallstone disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 06:15:54