Year 2019 / Volume 111 / Number 10
Case Report
Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation

806-808

DOI: 10.17235/reed.2019.6334/2019

José Miranda-Bautista, Julia Suárez-González, Cristina Andrés-Zayas, Ismael Buño, Rafael Bañares,

Abstract
Low phospholipid-associated cholelithiasis (LPAC) syndrome is characterized by early intrahepatic and symptomatic gallstones leading to cholangitis, acute pancreatitis and biliary colic. It has been associated with loss of function variants in the ABCB4 gene. ABCB4 encodes for a phospholipid translocator at the canalicular membrane of the hepatocyte, which “flops” phosphatidylcholine into bile. The autosomal recessive form is the most common, although autosomal dominant forms have also been described. We report the first family with autosomal dominant LPAC syndrome due to heterozygosity of the loss of function mutation c.2932T>C in ABCB4, identified by targeted next generation sequencing.
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References
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Miranda-Bautista J, Suárez-González J, Andrés-Zayas C, Buño I, Bañares R. Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation. 6334/2019


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Publication history

Received: 11/04/2019

Accepted: 09/06/2019

Online First: 20/09/2019

Published: 03/10/2019

Article Online First time: 162 days

Article editing time: 175 days


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