Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3

Liver International

Volumn 30, Issue 2, 2010, Pages 327-331

  Poupon, Raoul ^a,b,c   Barbu, Véronique ^a,b,c   Chamouard, Patrick ^d   Wendum, Dominique ^a,b,c   Rosmorduc, Olivier ^a,b,c   Housset, Chantal ^a,b  

^a SORBONNE UNIVERSITÉ   (France)

^b CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^c HÔPITAL SAINT ANTOINE   (France)

^d HÔPITAL DE HAUTEPIERRE   (France)

Author keywords

Biliary cirrhosis; Low phospholipid associated cholelithiasis syndrome; Phosphatidylcholine; Progressive familial intrahepatic cholestasis type 3

Indexed keywords

ADENOSINE TRIPHOSPHATE BINDING CASETTE B11; ADENOSINE TRIPHOSPHATE BINDING CASETTE B4; ALANINE; PHENYLALANINE; PHOSPHOLIPID; PROTEIN; SERINE; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID; VALINE;

ADULT; ARTICLE; CASE REPORT; CHOLELITHIASIS; DISEASE PREDISPOSITION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOLOCALIZATION; INTRAHEPATIC CHOLESTASIS; LIVER CIRRHOSIS; LIVER FAILURE; LIVER FIBROSIS; LIVER TRANSPLANTATION; MALE; ONSET AGE; PHENOTYPE; PHOSPHOLIPID ASSOCIATED CHOLELITHIASIS; PORTAL HYPERTENSION; PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS 3; PROTEIN LOCALIZATION; PROTEIN VARIANT; SEQUENCE ANALYSIS; SIBLING;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHOLELITHIASIS; CHOLESTASIS, INTRAHEPATIC; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; P-GLYCOPROTEINS; PHOSPHOLIPIDS; SIBLINGS;

EID: 77950616900     PISSN: 14783223     EISSN: 14783231     Source Type: Journal    
DOI: 10.1111/j.1478-3231.2009.02148.x     Document Type: Article

References (13)

1. Jacquemin E, de Vree JM, Cresteil D. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001, 120:1448-58.
2. Degiorgio D, Colombo C, Seia M. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 2007, 15:1230-8.
3. Keitel V, Burdelski M, Warskulat U. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology 2005, 41:1160-72.
4. Rosmorduc O, Hermelin B, Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 2001, 120:1459-67.
5. Rosmorduc O, Hermelin B, Boelle PY. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003, 125:452-9.
6. Oude Elferink RP, Paulusma CC. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Pflugers Arch 2007, 453:601-10.
7. Ziol M, Barbu V, Rosmorduc O. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 2008, 135:131-41.
8. Lucena JF, Herrero JI, Quiroga J. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003, 124:1037-42.
9. Trauner M, Fickert P, Wagner M. MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. Semin Liver Dis 2007, 27:77-98.
10. Dixon PH, Van Mil SW, Chambers J. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 2009, 58:537-44.
11. Meier Y, Zodan T, Lang C. Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol 2008, 14:38-45.
12. Lang C, Meier Y, Stieger B. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 2007, 17:47-60.
13. Lang T, Haberl M, Jung D. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 2006, 34:1582-99.