Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia

Background. Autoimmune polyglandular syndrome type 1 (APS type 1) is a rare inherited autoimmune disease caused by mutations in AIRE gene (autoimmune regulator) and characterized by list of components. Diabetes mellitus (DM) can be one of components of this disease. Aims. To show frequency of DM in...

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Autores principales: Leila S. Sozaeva, Lubov I. Zilberman, Galina N. Svetlova, Ekaterina A. Andrianova, Maria A. Kareva, Olga N. Ivanova, Svetlana M. Stepanova, Larisa V. Savelyeva, Alexandr Y. Mayorov, Ekaterina A. Troshina, Elizaveta M. Orlova, Eystein S. Husebye, Valentina A. Peterkova
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Publicado: Endocrinology Research Centre 2018
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spelling oai:doaj.org-article:d65b388c5d854351b4a44c51cabd94412021-11-14T09:00:21ZClinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia2072-03512072-037810.14341/DM9347https://doaj.org/article/d65b388c5d854351b4a44c51cabd94412018-03-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/9347https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Background. Autoimmune polyglandular syndrome type 1 (APS type 1) is a rare inherited autoimmune disease caused by mutations in AIRE gene (autoimmune regulator) and characterized by list of components. Diabetes mellitus (DM) can be one of components of this disease. Aims. To show frequency of DM in patients with APS type 1 in Russia, to describe clinical and immunological aspects of DM in patients with APS type 1 Materials and methods. 113 patients have been enrolled in the study, 16 of them had DM (15/16) or impaired glucose tolerance (1/16). Antibodies against glutamate decarboxylase, tyrosine phosphatase, zinc transporter-8, insulin and β-cells of pancreas were investigated in 30 patients with APS type 1 without DM and in 11 patients with APS type 1 and DM. ELISA test was used for detection autoantibodies. Results. Frequency of DM in patients with APS type 1 in Russia is 14.1% (16/113). Some patients had slow-progressive DM – 19%(3/16). Antibodies against insulin and β-cells were not specific and also were not sensitive markers for DM in APS type 1. Antibodies against tyrosine phosphatase and zinc transporter-8 test showed high specificity (100% и 97%), but low sensitivity (42% и 33,3%). Antibodies against glutamate decarboxylase were less specific (70%) and had very low sensitivity (58,3%). Conclusions. Frequency of DM in patients with APS type 1 in Russia is high to compare to other countries. 20% of Russian patients had slow-progressive course of DM. Antibodies against tyrosine phosphatase and zinc transporter-8 were the most specific for DM in patients with APS type 1, but sensitivity of these antibodies was low.Leila S. SozaevaLubov I. ZilbermanGalina N. SvetlovaEkaterina A. AndrianovaMaria A. KarevaOlga N. IvanovaSvetlana M. StepanovaLarisa V. SavelyevaAlexandr Y. MayorovEkaterina A. TroshinaElizaveta M. OrlovaEystein S. HusebyeValentina A. PeterkovaEndocrinology Research Centrearticleautoimmune polyglandular syndrome type 1airediabetes mellitusantibodiesglutamate decarboxylasetyrosine phosphatasezinc transporter-8insulinβ-cells of pancreasNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 21, Iss 1, Pp 48-57 (2018)
institution DOAJ
collection DOAJ
language EN
RU
topic autoimmune polyglandular syndrome type 1
aire
diabetes mellitus
antibodies
glutamate decarboxylase
tyrosine phosphatase
zinc transporter-8
insulin
β-cells of pancreas
Nutritional diseases. Deficiency diseases
RC620-627
spellingShingle autoimmune polyglandular syndrome type 1
aire
diabetes mellitus
antibodies
glutamate decarboxylase
tyrosine phosphatase
zinc transporter-8
insulin
β-cells of pancreas
Nutritional diseases. Deficiency diseases
RC620-627
Leila S. Sozaeva
Lubov I. Zilberman
Galina N. Svetlova
Ekaterina A. Andrianova
Maria A. Kareva
Olga N. Ivanova
Svetlana M. Stepanova
Larisa V. Savelyeva
Alexandr Y. Mayorov
Ekaterina A. Troshina
Elizaveta M. Orlova
Eystein S. Husebye
Valentina A. Peterkova
Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia
description Background. Autoimmune polyglandular syndrome type 1 (APS type 1) is a rare inherited autoimmune disease caused by mutations in AIRE gene (autoimmune regulator) and characterized by list of components. Diabetes mellitus (DM) can be one of components of this disease. Aims. To show frequency of DM in patients with APS type 1 in Russia, to describe clinical and immunological aspects of DM in patients with APS type 1 Materials and methods. 113 patients have been enrolled in the study, 16 of them had DM (15/16) or impaired glucose tolerance (1/16). Antibodies against glutamate decarboxylase, tyrosine phosphatase, zinc transporter-8, insulin and β-cells of pancreas were investigated in 30 patients with APS type 1 without DM and in 11 patients with APS type 1 and DM. ELISA test was used for detection autoantibodies. Results. Frequency of DM in patients with APS type 1 in Russia is 14.1% (16/113). Some patients had slow-progressive DM – 19%(3/16). Antibodies against insulin and β-cells were not specific and also were not sensitive markers for DM in APS type 1. Antibodies against tyrosine phosphatase and zinc transporter-8 test showed high specificity (100% и 97%), but low sensitivity (42% и 33,3%). Antibodies against glutamate decarboxylase were less specific (70%) and had very low sensitivity (58,3%). Conclusions. Frequency of DM in patients with APS type 1 in Russia is high to compare to other countries. 20% of Russian patients had slow-progressive course of DM. Antibodies against tyrosine phosphatase and zinc transporter-8 were the most specific for DM in patients with APS type 1, but sensitivity of these antibodies was low.
format article
author Leila S. Sozaeva
Lubov I. Zilberman
Galina N. Svetlova
Ekaterina A. Andrianova
Maria A. Kareva
Olga N. Ivanova
Svetlana M. Stepanova
Larisa V. Savelyeva
Alexandr Y. Mayorov
Ekaterina A. Troshina
Elizaveta M. Orlova
Eystein S. Husebye
Valentina A. Peterkova
author_facet Leila S. Sozaeva
Lubov I. Zilberman
Galina N. Svetlova
Ekaterina A. Andrianova
Maria A. Kareva
Olga N. Ivanova
Svetlana M. Stepanova
Larisa V. Savelyeva
Alexandr Y. Mayorov
Ekaterina A. Troshina
Elizaveta M. Orlova
Eystein S. Husebye
Valentina A. Peterkova
author_sort Leila S. Sozaeva
title Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia
title_short Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia
title_full Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia
title_fullStr Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia
title_full_unstemmed Clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in Russia
title_sort clinical and immunological characteristics of diabetes mellitus in patients with autoimmune polyglandular syndrome type 1 in russia
publisher Endocrinology Research Centre
publishDate 2018
url https://doaj.org/article/d65b388c5d854351b4a44c51cabd9441
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