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0219U004641,
0116U001017
,
To draw out the methods for early diagnosis, prevention, treatment and rehabilitation of patients with Wilson's disease
Voloshyna Nataliya,
17-09-2019
Ukrainian SRI of Clinical and Experimental Neurology and Psychiatry
Object of the investigations: patients with Wilson's disease. Wilson's disease (WD) is one of the few treatable inherited diseases. However, on the one hand it have been demonstrated that, if it is diagnosed early, there is a possibility to modify the course of the disease successfully and to maintain an active way of life of patients. On the other hand, a polymorphism of forms and symptoms of the course of the disease complicate an early diagnosis, resulting frequently in its delay for several years and, therefore, in an absence of pathogenically well-grounded treatment. Besides, there is no an unequivocal answer for questions of which medication should be used primarily, on which stage of the disease, and in which doses. Despite of the fact, that WD is a comorbid disease requiring an integrated life-long treatment, now there are practically no studies elucidating this aspect of the problem. Thus, the aim of the investigation was an integrated research of dynamics of clinical-neurological, clinical-psychiatric, functional, and biochemical features of Wilson's disease, phenotypic characteristics and peculiarities of the brain functional activity in patients with this pathology, and, on this basis, development of methods for early diagnosis and treatment in all stages of the course of the disease. The study was based on a comprehensive examination and an integrated treatment of 121 patients with Wilson's disease. This sample is biggest in Ukraine and one of the biggest ones worldwide. On the basis of data obtained, it was worked out an algorithm for early diagnosis of Wilson's disease. The algorithm consists of three stages. The first stage provides symptoms and syndromes, which give reasons to consider a possibility of WD presence. The second stage is a probable diagnosis, if there is one of such parameters as ceruloplasmin < 0.2 g/L, urine excretion of copper > 60 mcg per day, or presence of Kayser-Flescher rings. A final WD diagnosis is produced if there are all the three parameters mentioned above. On the base of analysis of the treatment taking into account all the links of WD pathogenesis and comorbidity, an algorithm of management for these patients was proposed. Methods, developed by us for rehabilitations and social-psychological adaptation, enable improvement both quality of life and life expectancy of these patients.
Є. В. Лєкомцева
І. В. Богданова
І. К. Волошин-Гапонов
І. М. Нікішкова
В. В. Медінцев
В. В. Сухоруков
Г. В. Лінська
Д. О. Кутіков
К. О. Пісоцька
Л. І. Мішина
Л. П. Забродіна
Мартишко П.О.
Н. Г. Давиденко
О. Є. Кутіков
О. І. Сєрікова
О. В. Єгоркіна
Р. А. Єна
Т. В. Негреба
2020-04-02
Updated: 2025-12-07
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