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[Wilson's disease].

P Günther1, W Hermann, H-J Kühn

  • 1Klinik und Poliklinik für Neurologie, Universität Leipzig. peter.guenther@medizin.uni-leipzig.de

Therapeutische Umschau. Revue Therapeutique
|January 16, 2007
PubMed
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Wilson's disease is a rare genetic disorder affecting copper transport, causing toxic metal buildup in the liver and brain. Early diagnosis and lifelong treatment prevent severe symptoms and the need for liver transplants.

Area of Science:

  • Genetics
  • Hepatology
  • Neurology

Background:

  • Wilson's disease is a rare autosomal recessive disorder.
  • It involves impaired hepatic copper transport and biliary excretion.
  • Copper overload affects the liver and basal ganglia, causing hepatic, neurological, and psychiatric symptoms.

Purpose of the Study:

  • To outline the diagnostic approaches for Wilson's disease.
  • To describe recommended investigations for assessment and follow-up.
  • To discuss therapeutic strategies and prognosis.

Main Methods:

  • Diagnosis relies on clinical suspicion, copper metabolism tests, ophthalmic examination, and liver biopsy.
  • Radiocopper testing aids in diagnosing patients with ambiguous results.

Related Experiment Videos

  • Neurophysiological studies and MRI are recommended for assessment and monitoring.

    • Main Results:

    • Genetic analysis can identify asymptomatic relatives.
    • Treatment involves lifelong chelating agents and zinc, regardless of disease stage.
    • Early diagnosis and consistent treatment significantly improve prognosis.

    Conclusions:

    • Wilson's disease requires lifelong management to prevent severe complications.
    • With timely intervention, the prognosis is excellent, often avoiding liver transplantation.