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[Wilson disease].

D Huster1, H-J Kühn, J Mössner

  • 1Medizinische Klinik & Poliklinik II, Universität Leipzig. dominik.huster@medizin.uni-leipzig.de

Der Internist
|May 26, 2005
PubMed
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Wilson disease is an inherited copper metabolism disorder affecting the liver and brain. Early diagnosis and treatment with chelators or zinc are crucial for managing symptoms and improving prognosis.

Area of Science:

  • Genetics
  • Hepatology
  • Neurology

Background:

  • Wilson disease is an autosomal recessive genetic disorder impacting copper metabolism.
  • The ATP7B gene mutation disrupts the hepatic copper transport protein, leading to copper accumulation.
  • This accumulation causes variable neurological symptoms and liver damage.

Purpose of the Study:

  • To summarize the clinical presentation, diagnosis, and management of Wilson disease.
  • To emphasize the importance of early intervention for patient outcomes.
  • To discuss therapeutic options including chelation therapy, zinc salts, and liver transplantation.

Main Methods:

  • Review of clinical manifestations including tremor, dysarthria, psychiatric disorders, and liver disease.
  • Biochemical and genetic testing for diagnosis.

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  • Evaluation of treatment strategies: chelators, zinc salts, and liver transplantation.
  • Monitoring of drug therapy, adverse effects, and patient compliance.

    • Main Results:

    • Copper deposition in the liver can lead to acute liver failure, chronic hepatitis, or cirrhosis.
    • Neurological symptoms are diverse and can significantly impact quality of life.
    • Early diagnosis and treatment are critical for preventing severe liver damage and neurological deficits.

    Conclusions:

    • Prompt clinical, biochemical, or genetic diagnosis is essential for Wilson disease management.
    • Effective therapies include chelators, zinc salts, and, in severe cases, liver transplantation.
    • Long-term monitoring is vital for successful disease management and prognosis.