Wilson’s disease: other investigations
Evidence-based neurology checklist on wilson’s disease: other investigations: Copper and ceruloplasmin tests: diagnostic values Serum copper <20 µg/dL Serum ceruloplasmin <20mg/dL 24-hour urinary copper >100µg/24 hours Exchangeable copper (CuEXC) level: >2.08 μmol/L in severe extra-hepatic disease…
Copper and ceruloplasmin tests: diagnostic values
- Serum copper <20 µg/dL
- Serum ceruloplasmin <20mg/dL
- 24-hour urinary copper >100µg/24 hours
- Exchangeable copper (CuEXC) level: >2.08 μmol/L in severe extra-hepatic disease
- Hepatic copper >210µg/gram: normal is <40µg/gram of dry weight
Transcranial ultrasound: hyperechogenic areas
Other tests
References
- Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47:2089-2111.
- Nicastro E, Ranucci G, Vajro P, Vegnente A, Iorio R. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010; 52:1948-1956.
- Yang X, Tang XP, Zhang YH, et al. Prospective evaluation of the diagnostic accuracy of hepatic copper content, as determined using the entire core of a liver biopsy sample. Hepatology 2015; 62:1731-1741.
- Ferenci P, Steindl-Munda P, Vogel W, et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson’s disease. Clin Gastroenterol Hepatol 2005; 3:811-888.
- Poujois A, Trocello JM, Djebrani-Oussedik N, et al. Exchangeable copper: a reflection of the neurological severity in Wilson's disease. Eur J Neurol 2017; 24:154-160.
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