title: ABCB4 deficiency: A family saga of early onset cholelithiasis, sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene.
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.
authors.affiliation: Department of Medicine II - Großhadern, University of Munich, Munich.
authors.forename: Gerald U
authors.initials: GU
authors.lastname: Denk
authors.forename: Hennie
authors.initials: H
authors.lastname: Bikker
authors.forename: Ronald H
authors.initials: RH
authors.lastname: Lekanne Dit Deprez
authors.forename: Valeska
authors.initials: V
authors.lastname: Terpstra
authors.forename: Chris
authors.initials: C
authors.lastname: van der Loos
authors.forename: Ulrich
authors.initials: U
authors.lastname: Beuers
authors.forename: Christian
authors.initials: C
authors.lastname: Rust
authors.forename: Thomas
authors.initials: T
authors.lastname: Pusl