电邮这篇文章 Autoimmune polyglandular syndrome type 1 in children: A clinical case
- 作者: 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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隶属关系:
- Russian Medical Academy of Continuous Professional Education
- Bashlyaeva Children's City Clinical Hospital
- JSC «Group of Companies “MEDSI”»
- Pirogov Russian National Research Medical University
- 期: 编号 4 (2024)
- 页面: 379-385
- 栏目: 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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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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作者简介
Irina Kholodova
Russian Medical Academy of Continuous Professional Education
编辑信件的主要联系方式.
Email: chin5@yandex.ru
ORCID iD: 0000-0003-0090-6980
D. Sci. (Med.)
俄罗斯联邦, MoscowElena Radchenko
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
ORCID iD: 0000-0001-5717-7171
gastroenterologist
俄罗斯联邦, MoscowIrina Maykova
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
ORCID iD: 0000-0003-2700-2607
Cand. Sci. (Med.)
俄罗斯联邦, MoscowYulia 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.)
俄罗斯联邦, Moscow; MoscowElena Kulagina
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
Cand. Sci. (Med.)
俄罗斯联邦, MoscowGoar Okminyan
Russian Medical Academy of Continuous Professional Education
Email: chin5@yandex.ru
ORCID iD: 0000-0002-1578-5870
Cand. (Sci.) Med.
俄罗斯联邦, MoscowAleksandra Vorobyova
Bashlyaeva Children's City Clinical Hospital
Email: chin5@yandex.ru
Cand. (Sci.) Med.
俄罗斯联邦, MoscowElena 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”»
俄罗斯联邦, Moscow; MoscowIsmail 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.
俄罗斯联邦, Moscow; MoscowIrina Zakharova
Russian Medical Academy of Continuous Professional Education
Email: chin5@yandex.ru
ORCID iD: 0000-0003-4200-4598
D. Sci. (Med.), Prof.
俄罗斯联邦, Moscow参考
- 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)].
- 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)].
- 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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