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Аутоиммунные полигландулярные синдромы взроcлых: генетические и иммунологические критерии диагностики

https://doi.org/10.14341/probl201460343-52

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Аннотация

В настоящее время выделяют четыре основных типа аутоиммунного полигландулярного синдрома (АПС). АПС 1-го типа характеризуется наличием хронического кандидоза, первичного гипопаратиреоза и первичной надпочечниковой недостаточности, развивается в основном в детском возрасте и связан с мутациями гена AIRE. АПС 2-го типа включает первичную надпочечниковую недостаточность в сочетании с аутоиммунными заболеваниями щитовидной железы и/или сахарным диабетом 1-го типа. АПС 3-го типа представляет собой сочетание аутоиммунных заболеваний щитовидной железы с другими эндокринными и неэндокринными аутоиммунными патологиями при отсутствии нарушения функции коры надпочечников и гипопаратиреоза. В АПС 4-го типа включены комбинации аутоиммунных заболеваний, не представленные в вышеуказанных группах. Синдромы манифестируют в возрасте 20-60 лет, имеют полигенный тип наследования и связаны с наличием генетических маркеров - гаплотипов HLAII-комплекса, генов CTLA-4, PTPN22, FOXP3 и др. В настоящее время выделяют и латентные формы АПС, встречаемость которых в популяции намного выше манифестных заболеваний. Скрытые заболевания могут сильно влиять на компенсацию и риск осложнений основного заболевания. В связи с этим большую важность представляет своевременное выявление групп риска формирования клинических форм АПС у пациентов с одной аутоиммунной эндокринной патологией.

Об авторах

А А Ларина
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


Е А Трошина
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


О Н Иванова
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


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Для цитирования:


Ларина А.А., Трошина Е.А., Иванова О.Н. Аутоиммунные полигландулярные синдромы взроcлых: генетические и иммунологические критерии диагностики. Проблемы Эндокринологии. 2014;60(3):43-52. https://doi.org/10.14341/probl201460343-52

For citation:


Larina A.A., Troshina E.A., Ivanova O.N. Autoimmune polyglandular syndromes in the adults: the genetic and immunological diagnostic criteria. Problems of Endocrinology. 2014;60(3):43-52. (In Russ.) https://doi.org/10.14341/probl201460343-52

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