Бъбречни увреждания при редки генетични синдроми
Ключови думи :
болест на Фабри, синдром на Алпорт, синдром на де Морсиер, синдром на Лорънс-Мун-Бардет-Бидъл, синдром на Бартер, синдром на Гителман, комплекс туберозна склероза, цистиноза, нефронофтизаАбстракт
Резюме. Генетичните синдроми представляват интерес за медиците поради факта, че имат разнообразна клинична изява и са свързани с различни органни увреждания. В статията се прави характеристика на някои редки генетични синдроми с бъбречно засягане, разглеждат се патогенетичните механизми на реналните увреждания, диагностичният им алгоритъм, клиничната манифестация и терапевтичното поведение.
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