Autoimmune polyglandular syndrome type 1 in children: A clinical case

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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Publication Details

Journal
Pediatrics Consilium Medicum
Published
2024-12-15
DOI
https://doi.org/10.26442/26586630.2024.4.203061
Primary Topic
Adrenal Hormones and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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Autoimmune polyglandular syndrome type 1 in children: A clinical case

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Autoimmune polyglandular syndrome type 1 in children: A clinical case

E. R. Radchenko, Goar Okminyan, И. Н. Захарова, I. D. Maykova, И. Н. Холодова, Elena P. Kulagina, И. М. Османов, Е. В. Москалева, Yu. А. Dmitrieva, A. S. Vorobyova
article en

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.

Pediatrics Consilium Medicum(4)
Pirogov Russian National Research Medical University (RU), Russian Medical Academy of Continuous Professional Education (RU), TRC Companies (United States) (US), Children's City Clinical Hospital №11 (RU)
Openalex Percentile: Top 61%
Adrenal Hormones and Disorders
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