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Thursday, 22 November 2007

Treament of genetic diseases in a real world 7: Wilson disease

See clinical synopsis in this link: wilson disease
Wilson disease can be treated effectively with metal chelating agent:
d-penicillamine (Cuprimine) especially in mild or asymptomatic cases, but patients with neurological symptoms way be worsen in the early period after treatment, and trientine(Syprine )is recommended for acute neurological alterations. Long term side effects of d-penicillamine is nephrotic syndrome, skin disruption and immune and bone marrow suppression. Zinc suphate is used in asymptomatic case or in maintenance phase after d-penicillamine treatment.


Agents/Circumstances to Avoid
Foods very high in copper (liver, brain, chocolate, mushrooms, shellfish, nuts), especially at the beginning of treatment

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