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.
MeSH terms
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ATP Binding Cassette Transporter, Subfamily B / genetics*
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ATP-Binding Cassette Transporters / genetics*
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Cholagogues and Choleretics / therapeutic use
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Cholecystectomy
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Cholestasis, Intrahepatic / genetics*
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Cholestasis, Intrahepatic / pathology
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DNA Mutational Analysis
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Humans
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Male
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Middle Aged
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Pain / etiology
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Pedigree
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Ursodeoxycholic Acid / therapeutic use
Substances
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ATP Binding Cassette Transporter, Subfamily B
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ATP-Binding Cassette Transporters
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Cholagogues and Choleretics
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Ursodeoxycholic Acid
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multidrug resistance protein 3