Email this article A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1
- Authors: Troshina V.V.1, Grebennikova T.A.1, Belaya Z.E.1
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Affiliations:
- National Medical Research Center of Endocrinology
- Issue: Vol 47, No 2 (2019)
- Pages: 175-179
- Section: CLINICAL CASES
- URL: https://almclinmed.ru/jour/article/view/1006
- DOI: https://doi.org/10.18786/2072-0505-2019-47-017
- ID: 1006
Cite item
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Abstract
The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49 years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.
About the authors
V. V. Troshina
National Medical Research Center of Endocrinology
Author for correspondence.
Email: for.troshina@gmail.com
Viktoriya V. Troshina – Resident,
11 Dmitriya Ul'yanova ul., Moscow, 117036
Russian FederationT. A. Grebennikova
National Medical Research Center of Endocrinology
Email: fake@neicon.ru
Tatiana A. Grebennikova – MD, PhD, Senior Research Fellow, Department of Neuroendocrinology and Bone Diseases,
11 Dmitriya Ul'yanova ul., Moscow, 117036
Russian FederationZh. E. Belaya
National Medical Research Center of Endocrinology
Email: fake@neicon.ru
Zhanna E. Belaya – MD, PhD, Professor, Head of Department of Neuroendocrinology and Bone Diseases,
11 Dmitriya Ul'yanova ul., Moscow, 117036
Russian FederationReferences
- Ларина АА, Трошина ЕА, Иванова ОН. Аутоиммунные полигландулярные синдромы взрослых: генетические и иммунологические критерии диагностики. В: Трошина ЕА, ред. Сборник методических рекомендаций (в помощь практическому врачу). Тверь: Триада; 2017. C. 59–74.
- Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev. 2002;23(3):327–64. doi: 10.1210/edrv.23.3.0466.
- Orlova EM, Bukina AM, Kuznetsova ES, Kareva MA, Zakharova EU, Peterkova VA, Dedov II. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr. 2010;73(6):449–57. doi: 10.1159/000313585.
- Bello MO, Garla VV. Polyglandular Autoimmune Syndrome Type I. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018–2019 Jan 27.
- Корнева ЕА, Петяева АВ, Федоткина ТВ, Чурилов ЛП, Шенфельд И. Итоги и перспективы развития аутоиммунологии в мире (По материалам 11-го международного конгресса в Лиссабоне 16–20 мая 2018 года). Сообщение I: Первая академия аутоиммунитета. Медицинская иммунология. 2019;21(1): 171–88. doi: 10.15789/1563-0625-2019-1-171-188.
- Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy syndrome. Clin Immunol. 2011;139(1):6–11. doi: 10.1016/j.clim.2010.12.021.
- Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990;322(26):1829–36. doi: 10.1056/NEJM199006283222601.
- Гребенникова ТА, Белая ЖЕ, Мельниченко ГА. Гипопаратиреоз: современное представление о заболевании и новые методы лечения. Эндокринная хирургия. 2017;11(2): 70–80. doi: 10.14341/serg2017270-80.
- Умярова ДШ, Гребенникова ТА, Тарбаева НВ, Белая ЖЕ. Лечение тяжелого идиопатического гипопаратиреоза на примере клинического случая. Остеопороз и остеопатии. 2018;21(2):36–40. doi: 10.14341/osteo9878.
- Saevik ÅB, Åkerman AK, Grønning K, Nermoen I, Valland SF, Finnes TE, Isaksson M, Dahlqvist P, Bergthorsdottir R, Ekwall O, Skov J, Nedrebø BG, Hulting AL, Wahlberg J, Svartberg J, Höybye C, Bleskestad IH, Jørgensen AP, Kämpe O, Øksnes M, Bensing S, Husebye ES. Clues for early detection of autoimmune Addison's disease – myths and realities. J Intern Med. 2018;283(2):190–9. doi: 10.1111/joim.12699.
- Юкина МЮ, Трошина ЕА, Платонова НМ, Бельцевич ДГ. Надпочечниковая недостаточность. В: Трошина ЕА, ред. Сборник методических рекомендаций (в помощь практическому врачу). Тверь: Триада; 2017. C. 149–92.
- Chakera AJ, Vaidya B. Addison disease in adults: diagnosis and management. Am J Med. 2010;123(5):409–13. doi: 10.1016/j.amjmed.2009.12.017.
- Barthel A, Benker G, Berens K, Diederich S, Manfras B, Gruber M, Kanczkowski W, Kline G, Kamvissi-Lorenz V, Hahner S, Beuschlein F, Brennand A, Boehm BO, Torpy DJ, Bornstein SR. An update on Addison's disease. Exp Clin Endocrinol Diabetes. 2019;127(2–03):165–75. doi: 10.1055/a-0804-2715.
- Фадеев ВВ, Мельниченко ГА. Надпочечниковая недостаточность. Русский медицинский журнал. 2001;(24):1088–94.
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