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文章基本信息

  • 标题:Wilson’s Disease
  • 作者:Urmi S Chakravarty-Vartak ; Chitra Nair ; Shailesh S Vartak
  • 期刊名称:Bombay Hospital Journal
  • 印刷版ISSN:0524-0182
  • 出版年度:2007
  • 卷号:49
  • 期号:03
  • 出版社:Bombay Hospital Institute of Medical Sciences
  • 摘要:

    Wilson disease is an autosomal recessive disease with an incidence of 1 in 40,000 in most populations. The disorder is caused by mutations of the ATP 7 B gene a membrane bound copper transporting ATPase. Single and symptoms are a result of copper overload and never observed before three years of age. The most common findings are hepatomegaly and signs of and symptoms of chronic liver disease. The diagnosis of this condition is not so easy. Serum ceruloplasmin levels ( 200 µg/g dry weight of the liver. We present one such case of Wilson disease.

  • 关键词:Wilson’s Disease;Chronic Liver Disease;Ceruloplasmin Levels;Wilson Disease;Hepatomegaly;Serum
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