Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation.
Rev Esp Enferm Dig
; 111(10): 806-808, 2019 10.
Article
em En
| MEDLINE
| ID: mdl-31538486
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Colelitíase
/
Subfamília B de Transportador de Cassetes de Ligação de ATP
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Female
/
Humans
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Male
Idioma:
En
Revista:
Rev Esp Enferm Dig
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2019
Tipo de documento:
Article