Моногенни автоинфламаторни заболявания. Периодични фебрилни синдроми
Abstract
Периодичните фебрилни синдроми представляват повтарящи се епизоди на фебрилитет с продължителност от няколко дни до седмици и се наблюдават в ранна детска възраст. След изключването на инфекции и злокачествени заболявания като причина за фебрилитет, в съображение се включват ревматологични заболявания. Наследствените периодични фебрилни синдроми са група моногенни заболявания и първите, които биват характеризирани като автоинфламаторни. Те са свързани с нарушения в неспецифичния имунитет. Понятието автоинфламация се характеризира с възникване на привидно непровокирани епизоди на възпаление без наличие на автоантитела или антиген-специфични Т-лимфоцити (характерни за автоимунните заболявания). При тези състояния, настъпва антиген-независима хиперактивация на неспецифичния имунен отговор. Периодичните фебрилни синдроми или още известни като системни автоинфламаторни заболявания се характеризират с рецидивиращи епизоди на фебрилитет, лабораторни белези на системно възпаление и различни симптоми от страна на стави, кожа, бял дроб, серзони мембрани, гастроинтестинален тракт, централна нервна система и други. Имайки предвид широката клинична хетерогенност и невисоката честота на тези състояния, те често биват диагностицирани и лекувани късно.
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