Аутоиммунный полиэндокринный синдром типа 1 и поражение глаз

Аутоиммунный полиэндокринный синдром типа 1 (АПС типа 1) – заболевание, характеризующееся разнообразными клиническими проявлениями, возникающими в результате вовлечения в патологический процесс множества эндокринных и неэндокринных органов. АПС типа 1 является редким генетически обусловленным заболеванием с аутосомно-рецессивным путём наследования. Мутации в гене аутоиммунного регулятора (AIRE) приводят к нарушению механизма нормальной экспрессии антигенов и возникновению патологических клонов иммунных клеток и могут вызвать развитие аутоиммунного поражения различных органов. В рамках АПС типа 1 наиболее распространёнными н арушениями являются первичная надпочечниковая недостаточность, гипопаратиреоз, хронический кандидоз. Одними из недостаточно изученных клинических проявлений АПС типа 1 являются аутоиммунные патологические процессы в глазах: кератоконъюнктивит, синдром сухого глаза, иридоциклит, ретинопатия, отслоение сетчатки и атрофия зрительного нерва. В обзоре представлены накопленные экспериментальные и клинические данные о развитии поражения глаз аутоиммунной природы при АПС типа 1, а также лабораторные и инструментальные методы, применяемые для диагностики заболевания. Изменения со стороны органов зрения в сочетании с клиническими проявлениями гипопаратиреоза, надпочечниковой недостаточностью и кандидозом должны заставить врачаклинициста предположить у пациента наличие АПС типа 1 и всесторонне обследовать его. Своевременное генетическое консультирование позволит на ранних этапах выявлять данное заболевание, своевременно назначить необходимое лечение и предотвратить тяжёлые осложнения.

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