Korean J Med.
2008 Jul;75(1):82-87.
A case of Wilson's disease associated with cholelithiasis
- Affiliations
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- 1Department of Internal Medicine, The Catholic University of Korea, College of Medicine, Seoul, Korea. garden@catholic.ac.kr
- 2Department of Pathology, The Catholic University of Korea, College of Medicine, Seoul, Korea.
Abstract
- 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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