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«Practical Oncology» Том 3, №2, 2020

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Орфанні захворювання в онкоендокринології (огляд літератури й власні дані)

Authors: Тронько М.Д., Кваченюк А.М., Луценко Л.А., Супрун І.С., Охрімчук О.О.
ДУ «Інститут ендокринології та обміну речовин ім. В.П. Комісаренка НАМН України», м. Київ, Україна

Categories: Oncology

Sections: Specialist manual

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Summary

Медико-соціальне значення орфанних захворювань обумовлене труднощами в діагностиці й лікуванні, а також несприятливим прогнозом і високою частотою інвалідизації пацієнтів. Ухвалення Національної стратегії з профілактики, діагностики й лікування орфанних захворювань в Україні свідчить про визнання проблеми на державному рівні та дає можливість вирішення питань своєчасного виявлення рідкісних захворювань, лікування й забезпечення пацієнтів життєво необхідними лікарськими засобами.

Медико-социальное значение орфанных заболеваний обусловлено трудностями в диагностике и лечении, а также неблагоприятным прогнозом и высокой частотой инвалидизации пациентов. Принятие Национальной стратегии по профилактике, диагностике и лечению орфанных заболеваний в Украине свидетельствует о признании проблемы на государственном уровне и дает возможность решения вопросов своевременного выявления редких заболеваний, лечения и обеспечения пациентов жизненно необходимыми лекарственными средствами.

Orphan diseases are of medical and social importance as they are difficult to diagnose and treat. Moreover, they have poor prognosis and are frequently the cause of patients’ disability. The adoption of National strategy for prevention, diagnosis and treatment of orphan diseases in Ukraine is the evidence of the recognition of this problem on the country level and makes it possible to resolve the issues of timely detection of rare diseases, treatment of patients and providing them with the necessary medications.


Keywords

ендокринологія; орфанні захворювання; акромегалія; множинна ендокринна неоплазія

эндокринология; орфанные заболевания; акромегалия; множественная эндокринная неоплазия

endocrinology; orphan disease; acromegalia; multiple endocrine neoplasia


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