actabiomedicaActa Biomedica ScientificaActa Biomedica Scientifica2541-94202587-9596Scientific Centre for Family Health and Human Reproduction Problems10.29413/ABS.2021-6.6-1.3actabiomedica-3107Research ArticleОФТАЛЬМОЛОГИЯOPHTHALMOLOGYАутоиммунный полиэндокринный синдром типа 1 и поражение глазAutoimmune polyglandular syndrome type 1 and eye damagehttps://orcid.org/0000-0001-6296-898XХамнуеваЛ. Ю.KhamnuevaL. Yu.

 доктор медицинских наук, профессор, заведующая кафедрой эндокринологии, клинической фармакологии и иммунологии

664003, г. Иркутск, ул. Красного Восстания, 1, Россия

 Dr. Sc. (Med.), Professor, Head of the Department of Endocrinology, Clinical Pharmacology and Immunology

 Krasnogo Vosstaniya str. 1, Irkutsk 664003, Russian Federation 

hamnueval@mail.ruhttps://orcid.org/0000-0003-0547-7521ЮрьеваТ. Н.IurevaT. N.

 доктор медицинских наук, профессор, заместитель директора по научной работе; профессор кафедры глазных болезней

664003, г. Иркутск, ул. Красного Восстания, 1, Россия

664033, г. Иркутск, ул. Лермонтова, 337, Россия

 Dr. Sc. (Med.), Professor, Deputy Director for Science; Professor at the  Department of Eye Diseases

  Krasnogo Vosstaniya str. 1, Irkutsk 664003, Russian Federation 

 Lermontovа str. 337, Irkutsk 664033, Russian Federation 

tnyurieva@mail.ruhttps://orcid.org/0000-0003-4687-0004АндрееваЛ. С.AndreevaL. S.

 кандидат медицинских наук, доцент кафедры эндокринологии, клинической фармакологии и иммунологии

664003, г. Иркутск, ул. Красного Восстания, 1, Россия

 Cand. Sc. (Med.), Associate Professor at the Department of Endocrinology, Clinical Pharmacology and Immunology 

 Krasnogo Vosstaniya str. 1, Irkutsk 664003, Russian Federation 

andreeva_larisa_@mail.ruhttps://orcid.org/0000-0002-2546-6320ЧугуноваЕ. В.ChugunovaE. V.

 ассистент кафедры эндокринологии, клинической фармакологии и иммунологии

664003, г. Иркутск, ул. Красного Восстания, 1, Россия

 Teaching Assistant at the Department of Endocrinology, Clinical Pharmacology and Immunology 

 Krasnogo Vosstaniya str. 1, Irkutsk 664003, Russian Federation 

e.v_chugunova@mail.ruФГБОУ ВО «Иркутский государственный медицинский университет» Минздрава РоссииIrkutsk State Medical University ФГБОУ ВО «Иркутский государственный медицинский университет» Минздрава России; Иркутский филиал ФГАУ «НМИЦ «МНТК «Микрохирургия глаза» имени академика С.Н. Фёдорова» Минздрава РоссииIrkutsk State Medical University; Irkutsk Branch of S. Fyodorov Eye Microsurgery Federal State Institution 20212512202166-11930Copyright © Хамнуева Л.Ю., Юрьева Т.Н., Андреева Л.С., Чугунова Е.В., 20212021Хамнуева Л.Ю., Юрьева Т.Н., Андреева Л.С., Чугунова Е.В.Khamnueva L.Y., Iureva T.N., Andreeva L.S., Chugunova E.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.actabiomedica.ru/jour/article/view/3107

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.

Autoimmune polyendocrine syndrome type 1 (APS type 1) is a disease characterized by a variety of clinical manifestations resulting from the involvement of multiple endocrine and non-endocrine organs in the pathological process. APS type 1 is a rare genetically determined disease with autosomal recessive inheritance. Mutations in the autoimmune regulator gene (AIRE) lead to a disruption of the mechanism of normal antigen expression and the formation of abnormal clones of immune cells, and can cause autoimmune damage to organs. Within APS type 1, the most common disorders are primary adrenal insufficiency, hypoparathyroidism, and chronic candidiasis. Some understudied clinical manifestations of APS type 1 are autoimmune pathological processes in the eye: keratoconjunctivitis, dry eye syndrome, iridocyclitis, retinopathy, retinal detachment, and optic atrophy. This review presents the accumulated experimental and clinical data on the development of eye damage of autoimmune nature in APS type 1, as well as the laboratory and instrumental methods used for diagnosing the disease. Changes in the visual organs in combination with clinical manifestations of hypoparathyroidism, adrenal insufficiency and candidiasis should lead the clinical doctor to suspect the presence of APS type 1 and to examine the patient comprehensively. Timely genetic counselling will allow early identifi cation of the disease, timely prescription of appropriate treatment and prevention of severe complications.

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The authors declare that there are no conflicts of interest present.