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. 2000 Nov;53(11):807–812. doi: 10.1136/jcp.53.11.807

Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring

D Gaffney, G Fell, D O'Reilly
PMCID: PMC1731102  PMID: 11127261

Abstract

Wilson's disease, the most common inherited disorder of copper metabolism, is a recessive genetic condition. The clinical presentation of Wilson's disease is very variable. It is characterised by low serum copper and caeruloplasmin concentrations coupled with the pathological accumulation of copper in the tissues. However, there are diagnostic difficulties and these are discussed. The current value of DNA diagnosis, both in gene tracking in families or as applied to de novo cases, is examined. Wilson's disease can be treated successfully but treatment must be life long. Patients are best treated by specialist centres with experience and expertise in the condition.

Key Words: Wilson's disease • copper • diagnosis

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Figure 1 Diagnosis of Wilson's disease (WD). CP + Cu, caeruloplasmin and copper concentrations; KF, Kayser-Fleischer rings.

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Figure 2 (A) Mean 65Cu enrichment time curve for serum after an oral dose of 65Cu in healthy control subjects. The broken lines give the upper and lower bounds. (B) 65Cu enrichment time curves for patients with Wilson's disease treated with penicillamine (filled circles) or with zinc (open circles). Note the difference in scale from panel (A).30

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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