Hepatocerebral dystrophy at the pre-neurological stage

Hepatocerebral dystrophy (GCD), or hepatolenticular degeneration, Wilson — Konovalov disease, is a severe hereditary progressive disease characterized by combined damage to internal organs and the brain (primarily the liver and subcortical nodes) and transmitted by an autosomal recessive type. If left untreated, GCD develops into a very severe, fatal disease of the central nervous system and internal organs. Pathogenetic supportive therapy, initiated in a timely manner and carried out throughout life, allows patients with GCD to remain phenotypically healthy, providing them with an active lifestyle and maintaining their ability to work. The study of GCD also allows us to partially highlight the general biological problem of correlation between brain pathology and pathology of internal organs and their relationship with metabolic disorders. A genetically determined defect in copper metabolism leads to endogenous intoxication with this element, which underlies the pathogenesis of IOP. Copper entering the body with food accumulates in the liver, leading to the formation of «Wilsonian» cirrhosis, as well as in the brain, kidneys and other organs, including the cornea (a characteristic Kaiser-Fleischer ring, detected with a slit lamp or visually). Pathogenetic copper elimination therapy contributes to a significant improvement in the condition of patients, and the treatment initiated at the preneurological stage prevents the development of clinical symptoms of the disease. We are monitoring 35 patients with GCD in the preneurological stage. All of them receive elimination therapy from several months to 15 years. The neurological stage of the disease did not develop in any case.