ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene

Gerald U. Denk, Hennie Bikker, Ronald H. Lekanne dit Deprez, Valeska Terpstra, Chris van der Loos, Ulrich Beuers, Christian Rust, Thomas Pusl

Research output: Contribution to journalArticleAcademicpeer-review

30 Citations (Scopus)

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
Original languageEnglish
Pages (from-to)937-941
JournalHepatology Research
Volume40
Issue number9
DOIs
Publication statusPublished - 2010

Cite this