Autoimmune polyglandular syndrome type 1 in children: A clinical case

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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, 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

  1. Орлова Е.М., Букина А.М., Захарова Е.Ю., и др. Клинический полиморфизм аутоиммунного полигландулярного синдрома 1-го типа. Роль молекулярно-генетической диагностики. Проблемы эндокринологии. 2005;51(5):22-6 [Orlova YeM, Bukina AM, Zakharova YeYu, et al. Clinical polymorphism of autoimmune polyglandular syndrome of type 1. Role of molecular genetic diagnosis. Problems of Endocrinology. 2005;51(5):22-6 (in Russian)].
  2. Орлова Е.М. Аутоиммунный полиэндокринный синдром 1 типа: клинические варианты, генетические основы, иммунологические маркеры, лечение и прогноз: автореф. … д-ра мед. наук. М., 2017 [Orlova EM. Autoimmunnyi poliendokrinnyi sindrom 1 tipa: klinicheskie varianty, geneticheskie osnovy, immunologicheskie markery, lechenie i prognoz: avtoref. … d-ra med. nauk. Moscow, 2017 (in Russian)].
  3. Галкина Г.А., Михайличенко Л.С., Созаева Д.И., и др. Аутоиммунный полигландулярный синдром I типа. Особенности клинических проявлений, трудности диагностики и методы коррекции. Медицинский вестник Юга России. 2021;12(4):67-73 [Galkina GA, Mikhailichenko LS, Sozaeva DI, et al. Autoimmune polyglandular syndrome type I. Features of clinical manifestations, difficulties in diagnosis and methods of correction. Medical Herald of the South of Russia. 2021;12(4):67-73 (in Russian)].

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2. Fig. 1. Fungal lesions of the fingernails and toenails in the child.

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3. Fig. 2. Appearance of the child at admission.

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4. Fig. 3. The patient sits down independently, watches cartoons, and shows increasing motor activity over time.

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5. Fig. 4. He was discharged from the hospital with improvement. He is active, walks independently along the corridor, is sociable, and draws.

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6. Fig. 5. The patient's condition at the second admission.

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