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Autoimmune polyendocrine syndrome type 1 in an 11-year- old boy
Yu. G. Samoilova,
M. V. Matveeva,
O. A. Oleynik,
D. A. Kudlay,
D. V. Podchinenova,
T. D. Vachadze,
E. V. Gorbatenko https://doi.org/10.21508/1027-4065-2024-69-1-108-113
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.
About the Authors
Yu. G. Samoilova
Siberian State Medical University
Russian Federation
Russian Federation
Tomsk
M. V. Matveeva
Siberian State Medical University
Russian Federation
Russian Federation
Tomsk
O. A. Oleynik
Siberian State Medical University
Russian Federation
Russian Federation
Tomsk
D. A. Kudlay
Sechenov First Moscow State Medical University (Sechenov University); National Research Center — Institute of Immunology Federal Medical-Biological Agency of Russia
Russian Federation
Russian Federation
Moscow
D. V. Podchinenova
Siberian State Medical University
Russian Federation
Russian Federation
Tomsk
T. D. Vachadze
Siberian State Medical University
Russian Federation
Russian Federation
Tomsk
E. V. Gorbatenko
Children’s Hospital № 1
Russian Federation
Russian Federation
Tomsk
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Review
For citations:
Samoilova Yu.G., Matveeva M.V., Oleynik O.A., Kudlay D.A., Podchinenova D.V., Vachadze T.D., Gorbatenko E.V. Autoimmune polyendocrine syndrome type 1 in an 11-year- old boy. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2024;69(1):108-113. (In Russ.) https://doi.org/10.21508/1027-4065-2024-69-1-108-113
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