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:

- Blood tests: Low serum ceruloplasmin levels and elevated liver enzymes.
- Urine tests: Increased urinary copper excretion.
- Liver biopsy: Measuring hepatic copper concentration.
- Genetic testing: Identifying mutations in the ATP7B gene.
- Ophthalmologic examination: Detecting Kayser-Fleischer rings, which are copper deposits in the cornea.

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