Autoimmune polyglandular syndrome type 1 in children: A clinical case

Irina N. Kholodova; Холодова Ирина Николаевна; Elena R. Radchenko; Радченко Елена Равильевна; Irina D. Maykova; Майкова Ирина Дмитриевна; Yulia A. Dmitrieva; Дмитриева Юлия Андреевна; Elena P. Kulagina; Кулагина Елена Павловна; Goar F. Okminyan; Окминян Гоар Феликсовна; Aleksandra S. Vorobyova; Воробьева Александра Сергеевна; Elena V. Moskaleva; Москалева Елена Владимировна; Ismail M. Osmanov; Османов Исмаил Магомедтагирович; Irina N. Zakharova; Захарова Ирина Николаевна

doi:10.26442/26586630.2024.4.203061

Autoimmune polyglandular syndrome type 1 in children: A clinical case

Authors: Kholodova I.N.¹, Radchenko E.R.², Maykova I.D.², Dmitrieva Y.A.¹^,2, Kulagina E.P.², Okminyan G.F.¹, Vorobyova A.S.², Moskaleva E.V.¹^,3, Osmanov I.M.²^,4, Zakharova I.N.¹
Affiliations:
1. Russian Medical Academy of Continuous Professional Education
2. Bashlyaeva Children's City Clinical Hospital
3. JSC «Group of Companies “MEDSI”»
4. Pirogov Russian National Research Medical University
Issue: No 4 (2024)
Pages: 379-385
Section: Articles
URL: https://pediatria.orscience.ru/2658-6630/article/view/646492
DOI: https://doi.org/10.26442/26586630.2024.4.203061
ID: 646492

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Abstract

The autoimmune polyglandular syndrome is a rare autoimmune disease characterized by simultaneous primary involvement of the endocrine glands and other organs. It is caused by a defect in the AutoImmune REgulator (AIRE) gene. The paper presents data on autoimmune polyglandular syndrome type 1, including the frequency of its occurrence, features of the clinical presentation, course, and prognosis. In the described clinical case, we present patient management with this syndrome, features of the disease course, the challenges of diagnosis and therapy choice, and the need for follow-up observation.

Keywords

children, autoimmune polyglandular syndrome type 1, gene defect, a triad of symptoms, mucocutaneous candidiasis, primary adrenal insufficiency, hypothyroidism, 6-year-old boy

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About the authors

Irina N. Kholodova

Russian Medical Academy of Continuous Professional Education

Author for correspondence.
Email: chin5@yandex.ru
ORCID iD: 0000-0003-0090-6980

D. Sci. (Med.)

Russian Federation, Moscow

Elena R. Radchenko

Bashlyaeva Children's City Clinical Hospital

Email: chin5@yandex.ru
ORCID iD: 0000-0001-5717-7171

gastroenterologist

Russian Federation, Moscow

Irina D. Maykova

Bashlyaeva Children's City Clinical Hospital

Email: chin5@yandex.ru
ORCID iD: 0000-0003-2700-2607

Cand. Sci. (Med.)

Russian Federation, Moscow

Yulia A. Dmitrieva

Russian Medical Academy of Continuous Professional Education; Bashlyaeva Children's City Clinical Hospital

Email: chin5@yandex.ru
ORCID iD: 0000-0003-0668-7336

Cand. Sci. (Med.)

Russian Federation, Moscow; Moscow

Elena P. Kulagina

Bashlyaeva Children's City Clinical Hospital

Email: chin5@yandex.ru

Cand. Sci. (Med.)

Russian Federation, Moscow

Goar F. Okminyan

Russian Medical Academy of Continuous Professional Education

Email: chin5@yandex.ru
ORCID iD: 0000-0002-1578-5870

Cand. (Sci.) Med.

Russian Federation, Moscow

Aleksandra S. Vorobyova

Bashlyaeva Children's City Clinical Hospital

Email: chin5@yandex.ru

Cand. (Sci.) Med.

Russian Federation, Moscow

Elena V. Moskaleva

Russian Medical Academy of Continuous Professional Education; JSC «Group of Companies “MEDSI”»

Email: chin5@yandex.ru

Resident, Russian Medical Academy of Continuous Professional Education, gastroenterologist, JSC «Group of Companies “MEDSI”»

Russian Federation, Moscow; Moscow

Ismail M. Osmanov

Bashlyaeva Children's City Clinical Hospital; Pirogov Russian National Research Medical University

Email: chin5@yandex.ru
ORCID iD: 0000-0003-3181-9601

D. Sci. (Med.), Prof.

Russian Federation, Moscow; Moscow

Irina N. Zakharova

Russian Medical Academy of Continuous Professional Education

Email: chin5@yandex.ru
ORCID iD: 0000-0003-4200-4598

D. Sci. (Med.), Prof.

Russian Federation, Moscow

References

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