[Current principles of Wilson's disease--diagnosis and treatment]

Wilson's disease defined also as hepatolenticular degeneration is an important clinical problem of young adults still causing diagnostic difficulties. In the course of the last decade, genetic background of the disease has been definitely established and elucidated, confirming the variety of genetic mutations, responsible for its origin. The current scheme of the disease treatment has been elaborated and established. It aims to eliminate the excess of toxic copper ions from the organism as fast as possible. In the initial phase of the treatment, traditional and recently introduced chelating agents administration usually results in prompt tissue copper deposits excretion and copper metabolism balance maintenance. In the chronic therapy, zinc compounds, inducing intestinal and hepatic metallothionein synthesis, have been gaining more common application. Life-long, constant, pharmacological Wilson's disease therapy, administered after its early diagnosis, allows for long periods of patients survival, frequently comparable to the normal population.