Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.
Gastroenterol Clin Biol
; 31(1): 106-9, 2007 Jan.
Article
en En
| MEDLINE
| ID: mdl-17273143
ABSTRACT
The ABCB4 gene codes for a protein involved in the transport of phosphatidylcholine across the canalicular membrane of the hepatocyte. ABCB4 gene defects have been associated with progressive familial intrahepatic cholestasis type 3, intrahepatic cholestasis of pregnancy, adult biliary cirrhosis and the more recently described low phospholipid associated cholelithiasis syndrome. The present paper describes 2 probands with a long history of recurrent pancreatitis and cholelithiasis and the same heterozygous, as yet undescribed del 3683>3688 within exon 28 of the ABCB4 gene resulting in a loss of function. This report shows that ABCB4 mutations may cause acute recurrent biliary pancreatitis.
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Banco de datos:
MEDLINE
Asunto principal:
Pancreatitis
/
Colelitiasis
/
Transportadoras de Casetes de Unión a ATP
/
Subfamilia B de Transportador de Casetes de Unión a ATP
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Año:
2007
Tipo del documento:
Article