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Wilson's disease: current status.

J C Yarze1, P Martin, S J Muñoz

  • 1Department of Medicine, Jefferson Medical College, Philadelphia, Pennsylvania 19107.

The American Journal of Medicine
|June 1, 1992
PubMed
Summary

Wilson's disease is an inherited disorder of copper metabolism affecting the liver and brain. Early diagnosis and treatment with medications like penicillamine, trientine, or zinc are crucial for successful management.

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Area of Science:

  • Hepatology
  • Genetics
  • Neurology

Background:

  • Wilson's disease is an inherited disorder of hepatobiliary copper excretion.
  • It leads to copper toxicosis, primarily affecting the liver and nervous system.
  • The disease follows an autosomal recessive inheritance pattern.

Purpose of the Study:

  • To review current understanding of Wilson's disease pathogenesis.
  • To outline clinical manifestations and treatment options.
  • To highlight recent advancements in the field.

Main Methods:

  • Literature review using MEDLINE database.
  • Extensive manual searching of bibliographies from identified sources.

Main Results:

  • The specific biochemical defect causing Wilson's disease remains unidentified.
  • The Wilson's disease gene is located on chromosome 13, but its product's function is unknown.
  • Clinical symptoms are diverse, including hepatic, neurologic, and psychiatric findings. Penicillamine is the primary treatment, with trientine and zinc as potential alternatives. Liver transplantation is indicated for fulminant hepatic failure.

Conclusions:

  • Wilson's disease is a treatable inherited disorder of copper metabolism.
  • Despite the undefined biochemical defect, effective therapies exist.
  • Prompt diagnosis is essential for successful management and preventing severe complications.

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