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Wilson disease - currently used anticopper therapy.
Anna Członkowska1, Tomasz Litwin2
1Second Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland; Department of Experimental and Clinical Pharmacology, Medical University of Warsaw, Poland.
Handbook of Clinical Neurology
|April 24, 2017
Summary
Wilson disease (WD) is a genetic copper metabolism disorder. Pharmacologic treatments, including chelators and zinc salts, effectively manage WD by promoting copper excretion or inhibiting absorption, requiring lifelong adherence and regular monitoring.
Area of Science:
- Genetics
- Metabolic Disorders
- Pharmacology
Background:
- Wilson disease (WD) is a rare genetic disorder affecting copper metabolism.
- Accumulation of copper in organs like the liver and brain leads to significant pathology.
- Current treatment strategies aim to reduce copper levels in the body.
Purpose of the Study:
- To review current pharmacologic treatments for Wilson disease.
- To discuss the mechanisms of action for available drugs.
- To outline expert recommendations and axioms for WD management.
Main Methods:
- Review of existing literature and expert recommendations on WD pharmacologic treatment.
- Discussion of chelating agents (d-penicillamine, trientine) and zinc salts.
- Consideration of treatment initiation, lifelong management, and monitoring.
Main Results:
- Chelators increase urinary copper excretion, while zinc salts inhibit intestinal copper absorption.
- Both approaches aim to achieve a negative copper balance and reduce organ overload.
- Treatment success hinges on lifelong compliance and regular monitoring of key health indicators.
Conclusions:
- Pharmacologic treatment is essential for managing Wilson disease.
- Immediate treatment post-diagnosis, lifelong adherence, and regular monitoring are critical.
- Current recommendations focus on established chelators and zinc salts, with novel agents under investigation.