Voloshyn-Gaponov I. Clinical-pathogenetic peculiarities of lesions of the central nervous system in patients with hepatocerebral dystrophy

This dissertation is based on results of an integrated examination of the biggest in Ukraine sample of patients (102 persons) with hepatocerebral dystrophy (HCD), a rare hereditary disease. In the dissertation theoretic grounds and a new solution of actual scientific problem of peculiarities and interconnections between lesions of brain and liver are presented, as well as the role of hemodynamic and neurotoxic factors in the brain lesion pathogenesis in patients with HCD is elucidated. On the base of the data obtained, new approaches and methods for an early HCD diagnosis, as well as treatment, prevention, and rehabilitation of such patients were worked out. For the first time it was noted out that in patients with HCD neurodegenerative processes occurred predominantly in target organs with concentration of a great amount of free toxic copper in them, especially in liver and brain structures. In other tissues of an organism a slightly elevated concentration of copper, taking into account the hormesis effect, might, in the contrary, stimulate processes of cell growth and proliferation, by these means fastening an exchange of cell populations. With clinical-laboratory, neuroimaging (CT, MRI), and Ultrasound examinations it was demonstrated that in the neurological stage of the disease all patients with HCD had both structural and functional liver impairments and 60 % of the patients had also kidney impairments. However, during this period pathological processes in liver and kidneys usually were characterized with a minimal activity and undermanifested symptoms. On the base of data obtained new approaches and methods for an early diagnosis, therapy, and preventions of neurological impairments in this disease were developed.