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Семейная средиземноморская лихорадка: современные представления

https://doi.org/10.1234/XXXX-XXXX-2016-3-3-11

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Аннотация

Семейная средиземноморская лихорадка, или периодическая болезнь (ПБ), - наследственное аутовоспалительное заболевание, наследуемое по аутосомно-рецессивному типу. Причина развития ПБ - мутации гена MEFV , который локализуется на коротком плече хромосомы 16. При ПБ наблюдаются периодически повторяющиеся приступы лихорадки, сопровождающиеся серозитами разной локализации, артритами, эризипелоидоподобным высыпанием; наиболее тяжелым осложнением является амилоидоз почек. Постановка диагноза базируется на клинических критериях и результатах генетического анализа мутаций гена MEFV . Основным медикаментом, позволяющим уменьшить частоту приступов и риск развития осложнений, в том числе и амилоидоза почек, является колхицин. В основе патогенеза ПБ лежит гиперактивация естественного иммунитета в виде гиперсекреции интерлейкинов, и препараты, блокирующие функции интерлейкинов, эффективны прежде всего у пациентов с побочными эффектами или резистентных к колхицинотерапии. В обзоре обсуждаются современные этиологические факторы заболевания, обусловленного генными мутациями, приводятся сведения о молекулярно-генетических методах диагностики, прогнозе развития заболевания, а также коррекции лечения.

Об авторе

С. А. Атоян
Центр медицинской гeнетики и первичной охраны здоровья; Ереванский Государственный Медицинский Универстет им. Мхитара Гераци
Россия


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Для цитирования:


Атоян С.А. Семейная средиземноморская лихорадка: современные представления. Медицинская генетика. 2016;15(3):3-11. https://doi.org/10.1234/XXXX-XXXX-2016-3-3-11

For citation:


Atoyan S.A. Familial mediterranean fever: current view. Medical Genetics. 2016;15(3):3-11. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-3-3-11

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