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18th Edition (August 5, 2011)
|Diagnostic Criteria for Wilson's disease|
|Written by G. Firman MD|
|Sunday, 08 March 2009 15:27|
Diagnostic Criteria for Wilson's disease
Liver biopsy is very helpful for making the diagnosis of Wilson's disease, especially in patients with normal ceruloplasmin levels and no evidence of Kayser-Fleischer rings. Hepatic copper concentrations greater than 250 micrograms/g dry weight (normal is <35 micrograms) are often found in untreated patients with Wilson's disease.
Identification of the Wilson's disease gene has made molecular diagnosis of this disease possible, but population-based screening is not feasible or recommended at this time. Genetic testing probably has had its biggest impact on screening of first-degree relatives of an affected person.
Created: May 16, 2005
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|Last Updated on Monday, 16 January 2012 18:45|
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