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
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Affiliations:
- Russian Medical Academy of Continuous Professional Education
- Bashlyaeva Children's City Clinical Hospital
- JSC «Group of Companies “MEDSI”»
- 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.
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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, MoscowElena R. Radchenko
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
ORCID iD: 0000-0001-5717-7171
gastroenterologist
Russian Federation, MoscowIrina D. Maykova
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
ORCID iD: 0000-0003-2700-2607
Cand. Sci. (Med.)
Russian Federation, MoscowYulia 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; MoscowElena P. Kulagina
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
Cand. Sci. (Med.)
Russian Federation, MoscowGoar F. Okminyan
Russian Medical Academy of Continuous Professional Education
Email: chin5@yandex.ru
ORCID iD: 0000-0002-1578-5870
Cand. (Sci.) Med.
Russian Federation, MoscowAleksandra S. Vorobyova
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
Cand. (Sci.) Med.
Russian Federation, MoscowElena 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; MoscowIsmail 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; MoscowIrina 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, MoscowReferences
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