Wilson’s disease: a review of clinical guidelines, literature and a case report

Abstract

Wilson’s disease (hepatocerebral dystrophy) is a rare hereditary disease that is caused by impaired copper metabolism affecting many organs, but mainly the liver and nervous system. Interest in the problem does not subside, because diagnosis and management of patients presents certain difficulties. The article highlights the literature data, clinical recommendations when discussing their own clinical observation of two patients (brother and sister) in whom the disease was diagnosed in childhood. Presented are clinical data, dynamics of laboratory parameters during 15 years of follow-up against the background of adequate chelation therapy with D-penicylamine and zinc sulfate, as well as during interruption of treatment. The necessity of adherence to a lifelong regimen of therapy is emphasized, since it is this tactic that demonstrates effectiveness in improving the prognosis of the disease.