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Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation
Authors:Fein Francine  Hermelin Brigitte  Becker Marie-Claude  Felix Sophie  Carbonnel Franck
Affiliation:Service de Gastroentérologie; CHU Saint-Antoine, 75012 Paris.
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.
Keywords:
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