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Expert Pearls

Wilson’s Disease - ceruloplasm - 20382

Ceruloplasm is a guide. It affects the index of suspicion when it is low, which is about 90% of the time. About 10% of patients have a normal ceruloplasmin and about 10% of carriers of the gene have a low ceruloplasmin, even though they will never be ill. It is not diagnostic. [Arch Neurolology June 1994;51:545-554. 20382 (1996)] 1996 Summary Interview PubMed

Wilson’s Disease - copper - 20382

24 hr urine copper is best assessment; > 100 mcg/ 24 hours in a well-performed test is virtually diagnostic of Wilson's disease. The "gold standard" for diagnosis is the quantitative copper in a liver biopsy. [Arch Neurolology, June 1994;51:545-554. 20382 (1996)]

Wilson’s Disease - copper, zinc - 20382

Urinary copper and zinc (24 hr collection) for follow-up/monitoring of therapy every 6 months. [Arch Neurology, June 1994;51:545-554. 20382 (1996)] Summary Interview PubMed

Wilson’s Disease - tetrathiomolybdate - 20382

Tetrathiomolybdate 20 mg t.i.d. with meals and 20 mg t.i.d between meals. Treat for 8 weeks and then switch to zinc acetate maintenance therapy (used for neurologic symptoms and acutely ill patients). [Arch Neurology, June 1994;51:545-554. 20382 (1996)] Summary Interview PubMed

Wilson’s Disease - zinc acetate - 20382

Zinc acetate -150 mg/d of elemental zinc in 3 divided doses 1 hour away from meals. For young patients use 25 mg, 3 times a day (used for chronically ill patients). [Arch Neurology, June 1994;51:545-554. 20382 (1996)] Summary Interview PubMed
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