Wilsonova choroba – vzácna, autozomálne recesívna dedičná choroba, ktorá je spôsobená deficitom ATP-ázy transportujúcej meď (ATP7B – Wilsonov gén, Wilsonova ATP-áza), pričom nastáva kumulácia medi v orgánoch, predovšetkým v pečeni a v mozgu. Porušená je exkrécia medi do žlče a inkorporácia do apoceruloplazmínu. Autori sa v článku zaoberajú klinickým obrazom, možnosťami diagnostiky, liečbou a prognózou tejto choroby.

Wilson‘s disease is a rare autosomal recessive genetic disease resulting from copper toxicity, primarily in brain and liver. The disease is caused by mutations in the ATP7B gene, which functions in a biliary copper excretory pathway. Failure of biliary excretion of excess copper leads to a slow accumulation of copper to the point of toxicity. In the article authors describe clinical patterns, diagnostic possibilities, therapy and prognosis of the disease.

Wilson‘s disease