Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring. Issue 11 (1st November 2000)

• Record Type: Journal Article
• Authors: Gaffney, D; Fell, G S; O'Reilly, D St J
• Is Part Of: Journal of clinical pathology. Volume 53:Issue 11(2000)
• Page Start: 807
• Page End: 812
• Publication Date: 2000-11-01
• Subjects: Wilson's disease -- copper -- diagnosis; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jcp.53.11.807
• Languages: English
• ISSNs: 0021-9746

Abstract

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.