Two cases of Wilson–Konovalov disease

Abstract

Wilson–Konovalov disease (hepatolenticular degeneration) is a monogenic autosomal recessive genetic disorder. For its pathogenesis, there is the underlying genetic disorder of copper metabolism in which copper accumulates in excessive amounts in target organs, primarily in the liver and cerebral basal ganglia. The disease more commonly manifests at a young age and, when untreated, progresses rapidly to death. At the same time, hepatolenticular degeneration is one of a few of hereditary diseases for which an effective pathogenetic therapy with copper-eliminating medications has been developed to reduce the amount of dietary copper and to remove its excess from the body. The paper describes two patients with the rigid-arrhythmic-hyperkinetic and trembling-rigid forms of Wilson–Konovalov disease.

Keywords

• wilson–konovalov disease
• hepatolenticular degeneration
• liver cirrhosis
• portal hypertension
• copper-eliminating drugs