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Wilson's disease.

P Ferenci1

  • 1Dept. Internal Medicine IV, Gastroenterology and Hepatology, University of Vienna, Wien, Austria.

Italian Journal of Gastroenterology and Hepatology
|September 2, 1999
PubMed
Summary
This summary is machine-generated.

Wilson's disease is an inherited copper metabolism disorder causing toxic copper buildup. Early diagnosis and lifelong treatment with chelating agents or zinc can stabilize patients and achieve remission.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Hepatology

Background:

  • Wilson disease is an autosomal recessive genetic disorder.
  • It results from pathological copper accumulation in organs and tissues.
  • The Wilson disease gene (ATP7B) is on chromosome 13, with over 100 documented mutations.

Purpose of the Study:

  • To summarize the clinical presentation, diagnosis, and management of Wilson disease.
  • To highlight diagnostic challenges, especially in patients with liver disease.
  • To review current treatment strategies and their efficacy.

Main Methods:

  • Review of clinical findings, including Kayser-Fleischer rings and neurological symptoms.
  • Analysis of laboratory abnormalities such as low serum caeruloplasmin and high hepatic copper.

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  • Discussion of molecular genetic testing for asymptomatic relatives.
  • Evaluation of treatment outcomes with chelating agents, zinc, and liver transplantation.

    • Main Results:

    • Wilson disease presents with diverse clinical manifestations, primarily liver disease, hemolytic anemia, and neuropsychiatric disturbances.
    • Diagnosis relies on a combination of clinical signs, laboratory tests, and genetic testing.
    • Most patients achieve stability and remission with lifelong treatment.
    • Liver transplantation is indicated for advanced liver disease.

    Conclusions:

    • Wilson disease requires a multi-faceted diagnostic approach.
    • Timely and appropriate treatment is crucial for managing copper overload and improving patient outcomes.
    • Genetic testing plays a vital role in identifying at-risk individuals and guiding management.