Año 2019 / Volumen 111 / Número 10
Caso Clínico
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,

Resumen
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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Bibliografía
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Instrucciones para citar
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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Ficha Técnica

Recibido: 11/04/2019

Aceptado: 09/06/2019

Prepublicado: 20/09/2019

Publicado: 03/10/2019

Tiempo de prepublicación: 162 días

Tiempo de edición del artículo: 175 días


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