Literature DB >> 16199000

[The MDR3 gene mutation: a rare cause of progressive familial intrahepatic cholestasis (PFIC)].

F Maisonnette1, T Abita, E Barriere, N Pichon, J F Vincensini, B Descottes.   

Abstract

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.

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Year:  2005        PMID: 16199000     DOI: 10.1016/j.anchir.2005.05.008

Source DB:  PubMed          Journal:  Ann Chir        ISSN: 0003-3944


  3 in total

Review 1.  Drug transporters in pharmacokinetics.

Authors:  Ernst Petzinger; Joachim Geyer
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2006-03-11       Impact factor: 3.000

2.  Tissue distribution, gender-divergent expression, ontogeny, and chemical induction of multidrug resistance transporter genes (Mdr1a, Mdr1b, Mdr2) in mice.

Authors:  Yue Julia Cui; Xingguo Cheng; Yi Miao Weaver; Curtis D Klaassen
Journal:  Drug Metab Dispos       Date:  2008-10-14       Impact factor: 3.922

Review 3.  Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.

Authors:  You-Wen Tan; Hai-Lei Ji; Zhong-Hua Lu; Guo-Hong Ge; Li Sun; Xin-Bei Zhou; Jian-Hui Sheng; Yu-Hua Gong
Journal:  World J Gastroenterol       Date:  2018-11-07       Impact factor: 5.742

  3 in total

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