[The MDR3 gene mutation: a rare cause of progressive familial intrahepatic cholestasis (PFIC)].
A 47-year old man complained about persistant pain and cholestasis 12-years after a cholescystectomy. In his family, all his brothers and sisters had cholecystectomy. Genetic explorations revealed a MDR3 gene mutation. All symptoms disappeared with a treatment by ursodesoxycholic acid. MDR3 gene mutation is to be researched in all cases of familial cholestasis.
Maisonnette
F
F
Service de chirurgie viscérale et transplantations, CHRU Dupuytren, 2, avenue Martin-Luther-King, 87042 Limoges, France. fmaisonnette@chpl.fr
Abita
T
T
Barriere
E
E
Pichon
N
N
Vincensini
J F
JF
Descottes
B
B
D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002756:Cholagogues and Choleretics / Q000627:therapeutic use; D002763:Cholecystectomy; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000209:etiology; D010375:Pedigree; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
D018435:ATP Binding Cassette Transporter, Subfamily B; D018528:ATP-Binding Cassette Transporters; D002756:Cholagogues and Choleretics; D014580:Ursodeoxycholic Acid; C095122:multidrug resistance protein 3