Diagnosticul şi evaluarea formelor clinice ale pacienţilor cu boala Wilson în populaţia Republicii Moldova

Rezumat

WD is an inherited autosomal recessive copper accumulation and toxicity disorder affecting about 30 individuals per million population, but its frequency increaseas in populations where consanquinity is more common. The diagnosis depends on the demonstration of low serum ceruloplazmin and copper levels, increased urinary copper excretion, decreased incorporation of radio copper in to ceruloplazmin and evidence for copper deposition in the cornea (Kayzer-Fleischerring) and liver. The difi culty in family screening could be solved with access to molecular diagnosis. The drug treatment of Wilson`s disease is based on the use of copper chelators to promote copper absorption or both. Liver transplantation is successful for patients with liver failure that is unresponsive to medical treatment.