[Diagnosis of Wilson disease by methods of molecular genetics]

Wilson's disease is an inborn error of cooper metabolism, inherited as an autosomal recessive gene. According to the variety of clinical features (most frequency hepatic, neurological, psychiatric and haematological) the clinical diagnostics often meets a number of difficulties. It is important to establish the diagnosis in the pre-symptomatic period, because treatment can prevent developing of the disease. The diagnosis is usually established after biochemical blood tests, that is the serum cooper and ceruloplasmin, 24-hour urinary cooper excretion and the functional test with radioactive cooper. However, all the methods quite frequently do not make it possible to confirm or exclude the diagnosis in sporadic cases. Sometimes, it is also impossible to distinguish between preclinical homozygotes and heterozygotes. Localizing of the pathogenic gene on the long arm of chromosome 13 opens new diagnostic prospects. Still, it is essential to find genetic markers situated next to the gene for applying the linkage analysis. It will also help to isolate the gene and to establish the primary biochemical defect of the disease.