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ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene
Author(s) -
Denk Gerald U.,
Bikker Hennie,
Lekanne dit Deprez Ronald H.,
Terpstra Valeska,
Van Der Loos Chris,
Beuers Ulrich,
Rust Christian,
Pusl Thomas
Publication year - 2010
Publication title -
hepatology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.123
H-Index - 75
eISSN - 1872-034X
pISSN - 1386-6346
DOI - 10.1111/j.1872-034x.2010.00698.x
Subject(s) - biliary cirrhosis , gastroenterology , gallstones , medicine , cirrhosis , ursodeoxycholic acid , cholestasis , biliary sludge , biliary tract , biology , disease , autoimmune disease
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.