ABCB4 deficiency: A family saga of early onset cholelithiasis,sclerosing cholangitis and cirrhosis and a novel mutation in the ABCB4 gene |
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| Authors: | Gerald U. Denk Hennie Bikker Ronald H. Lekanne dit Deprez Valeska Terpstra Chris Van Der Loos Ulrich Beuers Christian Rust Thomas Pusl |
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| Affiliation: | 1. Department of Medicine II – Gro?hadern, University of Munich, Munich;2. Departments of Clinical Genetics;3. Pathology;4. Gastroenterology and Hepatology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands |
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| 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. |
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