La mutation du gène MDR3 : une cause rare de cholestase familiale

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• 作者：F. Maisonnette ; T. Abita ; E. Barriere ; N. Pichon ; J.F. Vincensini and B. Descottes
• 关键词：Familial cholestasis ; MDR3 mutation
• 刊名：Annales de Chirurgie
• 出版年：2005
• 出版时间：2005
• 年：2005
• 卷：130
• 期：9
• 页码：581-583
• 全文大小：143 K

文摘

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.