Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation

  1. J. Miranda Bautista 1
  2. Julia Suárez González 1
  3. Cristina Andrés Zayas 1
  4. Ismael Buño 1
  5. Rafael Bañares Cañizares 1
  1. 1 Gregorio Marañón Health Research Institute. Madrid, Spain
Zeitschrift:
Revista Española de Enfermedades Digestivas

ISSN: 2340-416,  1130-0108

Datum der Publikation: 2019

Ausgabe: 111

Nummer: 10

Seiten: 806-808

Art: Artikel

DOI: 10.17235/REED.2019.6334/2019 DIALNET GOOGLE SCHOLAR

Andere Publikationen in: Revista Española de Enfermedades Digestivas

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Zusammenfassung

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.

Fuente de los datos: Dialnet