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Related Experiment Videos

Wilson's disease.

I Sternlieb1

  • 1Department of Medicine, Albert Einstein College of Medicine, Yeshiva University, Bronx, New York, USA. irmin@ix.netcom.com

Clinics in Liver Disease
|March 10, 2001
PubMed
Summary
This summary is machine-generated.

Wilson disease, a genetic metabolic disorder, is now diagnosable with certainty and treatable, evolving significantly over 90 years. While a cure is not yet possible, the condition is preventable and manageable.

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Spontaneous cholangiofibrosis in Long-Evans Cinnamon rats: a rodent model for Wilson's disease.

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Overcoming obstacles to the diagnosis of Wilson's disease.

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Area of Science:

  • * Medical Genetics
  • * Metabolic Disorders
  • * Clinical Diagnostics

Background:

  • * Wilson disease, also known as hepatolenticular degeneration, was historically challenging to diagnose and treat.
  • * Significant advancements over the past 90 years have transformed its clinical management.

Purpose of the Study:

  • * To review the evolution of Wilson disease diagnosis and treatment.
  • * To highlight the current status of manageability and prevention.

Main Methods:

  • * Literature review of historical and contemporary clinical data.
  • * Analysis of diagnostic and therapeutic advancements.

Main Results:

  • * Wilson disease is now a certainly diagnosable metabolic disorder.

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  • * Successful treatment and prevention strategies are established.

    • Conclusions:

    • * Wilson disease has transitioned from an intractable condition to a manageable one.
    • * Future research may focus on genetic defect correction for a definitive cure.