alexa Wilsons disease | Switzerland | PDF | PPT| Case Reports | Symptoms | Treatment

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Wilsons Disease

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  • Wilsons disease

    Pathophysiology

    Wilson disease is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. The pathogenesis of hepatic and neurologic Wilson disease is a direct consequence of copper accumulation.

  • Wilsons disease

    Statistics

    The frequency of this mutation in random DNA samples from 2601 US Caucasian newborns to be 0.285%. Multiplying by three gives an expected Wilson's disease heterozygote frequency of 0.855% and an allele frequency of 0.428%, or 0.00428.

  • Wilsons disease

    Treatment

    Chelation therapy drugs approved for treating Wilson disease include penicillamine (Cuprimine® and Depen®) and trientine (Syprine® and Trientine Dihydrochloride).

  • Wilsons disease

    Major research

    In USA the Wilson Disease Association is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Wilson disease.

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