Background Wilson’s disease (WD) is an autosomal recessive disorder of copper (Cu) transport caused by a deficiency of copper-transporting ATPase-ATP7B.

Methods We studied twenty nine children from 2 to 18 years of age. The 1-st group (14 persons) consisted of heterozygotes for WD. The 2-nd group (15) were patients with hepatic form of WD. The diagnosis of WD in children was based on clinical symptoms, laboratory tests a DNA analysis.

Results Ceruloplasmin level was abnormally low in 58.3% (0.21±0.13) of WD children. All the 24-hour urine Cu collections contained elevated residues of more then 0.6 μmol/day (1.85±1.0 μmol/day). Levels higher than 1.6 μmol/day were detected only in five children, i.e. 41.6%. A statistically significant difference (P<0,05) in the 24-hour excretion of copper in urine was discovered between the control group and children with WD and WD heterozygote carriers. On the contrary, urinary copper excretion after penicillamine administration exceeded 20 μmol/day only in two children. Both ceruloplasmin and Cu in urine were abnormal in 28.5% of heterozygotes. An important way of examination is the copper content of more than 250 μg/g hepatic dry weight. In p.H1069Q carriers we demonstrated minimal brain damage, graphomotoric inaptitude and slightly abnormal EEG in the basic activity without clinical correlate, and an attack of anxiety disorder. Kayser-Fleischer ring was not detected in our patients. Three girls underwent ortotopic liver transplantation (OLT) because of acute liver failure and hemolytic anemia.

Conclusions We present difficulties existing in diagnosis of WD in children and confirm advantages of DNA testing.