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- Title
ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
- Authors
Denk, Gerald U.; Bikker, Hennie; Lekanne dit Deprez, Ronald H.; Terpstra, Valeska; van der Loos, Chris; Beuers, Ulrich; Rust, Christian; Pusl, Thomas
- Abstract
Gallstones are very common. However, there is a small group of patients with low phospholipid-associated cholelithiasis (LPAC) that is characterized by symptomatic cholelithiasis at a young age (<40 years), recurrence of biliary symptoms despite cholecystectomy and concrements or sludge in the intra- and extrahepatic biliary system. The LPAC syndrome is associated with mutations of the adenosine triphosphate-binding cassette, subfamily B, member 4 ( ABCB4) gene encoding the hepatobiliary phospholipid translocator multidrug resistance protein 3 (MDR3). Impairment of MDR3 leads to a reduction of biliary phosphatidyl choline levels resulting in a lithogenic and toxic bile. This causes recurrent cholelithiasis, continuous irritations of the biliary tract with cholangitis, chronic cholestasis and even biliary cirrhosis. Here we report on a family with ABCB4 deficiency and LPAC syndrome associated with a novel mutation (c.3203T>A) in the ABCB4 gene.
- Subjects
GALLSTONES; CHOLECYSTECTOMY; GENETIC mutation; GENES; PROTEINS; CHOLESTASIS; PATIENTS
- Publication
Hepatology Research, 2010, Vol 40, Issue 9, p937
- ISSN
1386-6346
- Publication type
Article
- DOI
10.1111/j.1872-034X.2010.00698.x