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KMID : 0882420080750010082
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Korean Journal of Medicine
2008 Volume.75 No. 1 p.82 ~ p.87
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A case of Wilson’s disease associated with cholelithiasis
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Jung Yun-Hwa
Jang Jeong-Won
Ji Jeong-Seon
Kim Byung-Wook
Choi Hwang
Choi Gyu-Yong
Maeng Lee-So
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Abstract
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Wilson’s disease is a rare autosomal recessive metabolic disease. The ATB7B gene mutation results in a defect of biliary copper excretion and subsequent accumulation of copper in the liver, brain, and sclera.
The usual clinical signs of Wilson’s disease include hepatitis, liver cirrhosis, movement disorder, or a Kayser-Fleisher ring in the sclera, but patients occasionally present with hepatic failure or hemolytic anemia. Under such metabolic conditions, free copper induce chronic hemolysis with oxidative damage via free radical production, and chronic hemolysis, in turn, can cause secondary pigment bililary stone formation. Herein we report a case of Wilson’s disease associated with cholelithiasis in a young female.
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KEYWORD
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Wilson’s disease, Hemolysis, Cholelithiasis
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