Acute recurrent biliary pancreatitis associated with the ABCB4 gene mutation.
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.
Fein
Francine
F
Service de Gastroentérologie; CHU Saint-Antoine, 75012 Paris.
Hermelin
Brigitte
B
Becker
Marie-Claude
MC
Felix
Sophie
S
Carbonnel
Franck
F
D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000208:Acute Disease; D000328:Adult; D002769:Cholelithiasis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016896:Treatment Outcome
D018435:ATP Binding Cassette Transporter, Subfamily B; D018528:ATP-Binding Cassette Transporters; C095122:multidrug resistance protein 3