Keywords
autoimmune polyendocrine syndrome, Schmidt’s syndrome, autoimmune thyroiditis, Addison’s disease, diabetes mellitus, AIRE, major histocompatibility complex, autoantibodies
How to Cite
Gubergrits, N. B., Byelyayeva, N. V., Monogarova, N. E., Golubova, O. A., Borodiy, K. N., Klochkov, A. Y., Lukashevich, G. M., Mozhyna, T. L., & Koval, E. N. (2021). Stranger among friends, or How to diagnose autoimmune polyendocrine syndrome. Herald of Pancreatic Club, 52(3), 47-66. Retrieved from https://vkp.org.ua/index.php/journal/article/view/255
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Abstract
The article presents a clinical case of autoimmune polyendocrine syndrome (APS) type 2, i.e. Schmidt’s syndrome (a combination of autoimmune thyroiditis and Addison’s disease) with hereditary calcifying pancreatitis. The patient’s status improved against the background of the prescribed hormonal medications and enzyme replacement therapy.
The initial and current classification of APS is described. Review of literature data characterizing the prevalence, peculiarities of the origin and course of APS type 1 (chronic mucocutaneous candidosis, Addison’s disease, hypoparathyreosis), APS type 2 (Addison’s disease, autoimmune thyroiditis, diabetes mellitus type 1), IPEX-syndrome (immune dysregulation syndrome, polyendocrinopathy and enteropathy linked to X chromosome) has been conducted. Mechanisms of central and peripheral immunotolerance are considered, functions of regulatory T-cells and mechanisms of autoantibodies synthesis, as well as the processes occurring in case of dysfunction of regulatory T-cells are characterized. Pathogenesis of formation of APS type 1 and type 2, IPEX-syndrome is described. Structure and mutations of the AIRE gene typical for APS type 1 are described, the types of HLA and MICA polymorphisms typical for APS type 2 are presented, and autoantibodies formed in these two pathologies are named. Various combinations of autoimmune pathologies of non-endocrine character supplementing the picture of APS are considered. Attention is paid to clinical manifestations and modern diagnostics of APS types 1 and 2. Therapeutic methods of APS correction, prospects of specific and non-specific immunotherapy application are described.
References
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