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wilson's disease
How is Wilson's Disease Diagnosed?
Diagnosing Wilson's disease in pediatric patients involves a combination of clinical evaluation, family history, and several diagnostic tests:
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Blood tests
: Low serum ceruloplasmin levels and elevated liver enzymes.
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Urine tests
: Increased urinary copper excretion.
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Liver biopsy
: Measuring hepatic copper concentration.
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Genetic testing
: Identifying mutations in the ATP7B gene.
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Ophthalmologic examination
: Detecting Kayser-Fleischer rings, which are copper deposits in the cornea.
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