Autoimmune polyendocrine syndrome type 1 in an 11-year- old boy-Reference-Cited by-同舟云学术

Autoimmune polyendocrine syndrome type 1 in an 11-year- old boy

Published:2024-03-08 Issue:1 Volume:69 Page:108-113
ISSN:2500-2228
Container-title:Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
language:
Short-container-title:Ross. vestn. perinatol. pediatr.

Author:

Samoilova Yu. G.¹^ORCID,Matveeva M. V.¹^ORCID,Oleynik O. A.¹^ORCID,Kudlay D. A.²^ORCID,Podchinenova D. V.¹^ORCID,Vachadze T. D.¹^ORCID,Gorbatenko E. V.³^ORCID

Affiliation:

1. Siberian State Medical University

2. Sechenov First Moscow State Medical University (Sechenov University); National Research Center — Institute of Immunology Federal Medical-Biological Agency of Russia

3. Children’s Hospital № 1

Abstract

Autoimmune polyendocrine syndrome type 1 is a rare autosomal recessive hereditary pathology — a defect in the autoimmune regulator gene (AIRE), which develops with endocrine and non-endocrine manifestations in childhood. The disease is characterized by clinical polymorphism, which makes timely diagnosis difficult. The article describes a clinical case of an 11-year-old patient with autoimmune polyendocrine syndrome type 1, in whom the course of the disease was erased for a long period. The high quality of life of such patients is possible with timely, individually selected substitution therapy, followed by dispensary observation.

Publisher

The National Academy of Pediatric Science and Innovation

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