Viera Kupčová
Wilson disease (WD) is a congenital disease, with autosomal-recessive type of inheritance, which leads to accumulation
of copper in tissues, dominantly inside the liver and brain. The hepatic form of WD may be manifested as steatosis,
chronic, eventually acute hepatitis, or liver cirrhosis. The neurological form is manifested most offen after second decade
as motoric disturbance (tremor, speech and writing impairment), which may have progression to severe extrapyramidal
syndrome with dysarthria, dyphagia, tremor, rigidity and sometimes even with muscle contractures.
Neurological symptoms may be combined with psychiatric symptomatology. Confirmation of diagnosis is possible
according to clinical and laboratory investigations (finding of Kayser-Fleischer ring, decreased level of ceruloplasmin
and copper in serum, elevation of free copper in serum, elevated amount of copper in urine after 24 hours, etc.). Genetical
investigation, or investigation of copper in liver tissue confirms the diagnosis. In a group of 109 individuals there
was: 45 patients – homozygots, 6 patients – combined heterozygots, 44 individuals with one mutation in heterozygous
form and 14 individuals withouth mutation. 60 % of patients had hepatic form of disease, 21 % neurologicpsychiatric
form of disease and 19 % mixed form of disease. 91 % of patients were treated conservatively, 9 % underwent
liver transplantation. In patients with WD signifficant decreased values of apoceruloplasmin, ferroxidase and polyfenoloxidase
activity of ceruloplasmin were present. These findings support oxidation stress in Wilson disease.