The MDR3 gene mutation: A rare cause of progressive familial intrahepatic cholestasis (PFIC);La mutation du gène MDR3: Une cause rare de cholestase familiale

Annales de Chirurgie

Volumn 130, Issue 9, 2005, Pages 581-583

  Maisonnette, F ^a   Abita, T ^a   Barriere, E ^a   Pichon, N ^a   Vincensini, J F ^a   Descottes, B ^a  

^a DUPUYTREN UNIVERSITY HOSPITAL   (France)

Author keywords

Familial cholestasis; MDR3 mutation

Indexed keywords

URSODEOXYCHOLIC ACID;

ADULT; ARTICLE; CASE REPORT; CHOLECYSTECTOMY; CHOLESTASIS; FAMILY; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTRAHEPATIC CHOLESTASIS; MALE; MULTIDRUG RESISTANCE; PAIN; POSTOPERATIVE PERIOD; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS; SIBLING; SYMPTOM;

ATP-BINDING CASSETTE TRANSPORTERS; CHOLAGOGUES AND CHOLERETICS; CHOLECYSTECTOMY; CHOLESTASIS, INTRAHEPATIC; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MIDDLE AGED; P-GLYCOPROTEINS; PAIN; PEDIGREE; URSODEOXYCHOLIC ACID;

EID: 27144504762     PISSN: 00033944     EISSN: 17683157     Source Type: Journal    
DOI: 10.1016/j.anchir.2005.05.008     Document Type: Article

References (11)

1. P. Lovisetto, R. Ferraris, L. Marchi, D. Mairano, M.L. Colombo, and L. Magnetti Familial progressive intrahepatic cholestasis. Byler's disease Minerva Med. 70 55 1979 3763 3781
2. J.M. De Vree, E. Jacquemin, and D. Cresteil Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis Proc. Natl. Acad. Sci. USA 95 1998 282 287
3. O. Rosmorduc, B. Hermelin, and R. Poupon MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis Gastroenterology 120 2001 1459 1467
4. E. Jacquemin, J.M. De Vree, and D. Cresteil The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood Gastroenterology 120 2001 1448 1458
5. C. Pauli-Magnus, R. Kerb, K. Fattinger, T. Lang, B. Anwald, and G.A. Kullak-Ublick BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis Hepatology 39 3 2004 779 791
6. M. Trauner, P. Fickert, and R.E. Stauber New molecular aspects of cholestatic liver diseases Z. Gastroenterol. 37 7 1999 639 647
7. J.F. Deleuze, E. Jacquemin, C. Dubuisson, D. Cresteil, M. Dumont, and S. Erlinger Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis Hepatology 23 4 1996 904 908
8. F. Lammert, D.Q. Wang, S. Hillebrandt, A. Geier, P. Fickert, and M. Trauner Spontaneous cholecysto- and hepatolithiasis in MDR2-/- mice: a model for low phospholipid-associated cholelithiasis Hepatology 39 1 2004 117 128
9. E.M. Alonso, D.C. Snover, A. Montag, D.K. Freese, and P.F. Whitington Histologic pathology of the liver in progressive familial intrahepatic cholestasis J. Pediatr. Gastroenterol. Nutr. 18 2 1994 128 133
10. G. Paumgartner, and U. Beuers Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited Hepatology 36 3 2002 525 531
11. E.F. Eppens, S.W. van Mil, J.M. de Vree, K.S. Mok, J.A. Juijn, and R.P. Oude Elferink FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte J. Hepatol. 35 4 2001 436 443