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.
Highlights
Болезнь Вильсона – Коновалова – моногенное заболевание с аутосомно-рецессивным типом наследования
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
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
Summary
Болезнь Вильсона – Коновалова (гепатолентикулярная дегенерация) – моногенное заболевание с аутосомно-рецессивным типом наследования. Ключевые слова: болезнь Вильсона – Коновалова, гепатолентикулярная дегенерация, цирроз печени, портальная гипертензия, медь-элиминирующие препараты. Существенную роль в развитии неврологических осложнений при болезни Вильсона – Коновалова играет также механизм «ложной нейротрансмиссии».
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