自身免疫性多内分泌腺病综合征II型1例并文献复习
Autoimmune Polyendocrine Syndrome Type II: A Case Report and Literature Review
DOI: 10.12677/ACM.2022.1281127, PDF,   
作者: 高 珊：青岛大学第十一临床医学院，山东 青岛；临沂市人民医院，山东 临沂；杜文华*, 高冠起*：临沂市人民医院，山东 临沂
关键词: 弥漫性甲状腺肿伴甲状腺功能亢进症；糖尿病；1型；多内分泌腺疾病；自身免疫性；病例报告；Diffuse Goiter with Hyperthyroidism； Diabetes Mellitus； Type 1； Polyendocrine Gland Diseases； Autoimmune； Case Report
摘要: 目的：自身免疫性多内分泌腺病综合征是一种罕见病，通过病例报道分析疾病特点及治疗方法，提高临床医师对疾病的认识，促进疾病的治疗及改善预后。方法：报道1例以弥漫性甲状腺肿伴甲状腺功能亢进症和1型糖尿病为主要表现的APS II型。结果：根据临床表现及辅助检查，诊断为“自身免疫性多内分泌腺病综合征II型”：弥漫性甲状腺肿伴甲状腺功能亢进症、1型糖尿病。入院后予降糖、补液、纠酸及激素替代治疗，血糖控制平稳，甲状腺功能较前无明显变化。结论：自身免疫性多内分泌腺病综合征是指同一患者中存在2种及以上的内分泌疾病，起病隐匿，早期发现及规范治疗有利于改善预后。
Abstract: Objective: Autoimmune polyendocrine syndrome is a rare disease, to improve clinicians’ un-derstanding of the disease, promote the treatment of the disease and improve the prognosis by analyzing the characteristics and treatment methods of the disease through case reports. Methods: A case of APS type II with diffuse goiter with hyperthyroidism and type 1 diabetes mellitus was reported. Results: According to the clinical manifestations and auxiliary examina-tion, the patient was diagnosed as “autoimmune polyendocrine syndrome type II”: diffuse goi-ter with hyperthyroidism and type 1 diabetes mellitus. After admission, hypoglycemia, fluid re-hydration, acid correction and hormone replacement therapy were given. Blood glucose control was stable, and thyroid function did not change significantly. Conclusion: Autoimmune polyen-docrine adenopathy syndrome refers to the presence of two or more endocrine diseases in the same patient; due to the insidious onset, early detection and standardized treatment is condu-cive to improve the prognosis.
文章引用：高珊, 杜文华, 高冠起. 自身免疫性多内分泌腺病综合征II型1例并文献复习[J]. 临床医学进展, 2022, 12(8): 7824-7829. https://doi.org/10.12677/ACM.2022.1281127

参考文献

[1] Husebye E S, Anderson, M.S. and Kämpe, O. (2018) Autoimmune Polyendocrine Syndromes. New England Journal of Medicine, 378, 1132-1141. [Google Scholar] [CrossRef] 
[2] 相萍萍, 苏晓辉, 狄红杰, 刘超, 曹雯. 自身免疫性多内分泌腺病综合征Ⅱ型一例报道并文献复习[J]. 中国全科医学, 2019, 22(35): 4401-4405.
[3] Kahaly, G.J. and Frommer, L. (2018) Polyglandular Autoimmune Syndromes. Journal of En-docrinological Investigation, 41, 91-98. [Google Scholar] [CrossRef] [PubMed]
[4] Krysiak, R., Okopien, B. and Bołdys, A. (2008) Autoimmune Polyglandular Syndromes. Przegląd Lekarski, 65, 393-400.
[5] Ahonen, P. (1985) Autoimmune Polyendocrinopathy-Candidosis-Ectodermal Dystrophy (APECED): Autosomal Recessive Inheritance. Clinical Genetics, 27, 535-542. [Google Scholar] [CrossRef] [PubMed]
[6] Esselborn, V.M., Landing, B.H., Whitaker, J. and Williams, RR. (1956) The Syndrome of Familial Juvenile Hypoadrenocorticism, Hypoparathyroidism and Super-ficial Moniliasis. The Journal of Clinical Endocrinology & Metabolism, 16, 1374-1387. [Google Scholar] [CrossRef] [PubMed]
[7] Neufeld, M., Maclaren, N. and Blizzard, R. (1980) Autoim-mune Polyglandular Syndromes. Pediatric Annals, 9, 154-162. [Google Scholar] [CrossRef] 
[8] Dittmar, M. and Kahaly, G.J. (2003) Polyglandular Autoimmune Syndromes: Immunogenetics and Long-Term Follow-Up. The Journal of Clinical Endocrinology & Metabolism, 88, 2983-2992. [Google Scholar] [CrossRef] [PubMed]
[9] Ahonen, P., Myllärniemi, S., Sipilä, I. and Perheentupa, J. (1990) Clinical Variation of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in a Series of 68 Patients. New England Journal of Medicine, 322, 1829-1836. [Google Scholar] [CrossRef] 
[10] Zlotogora, J. and Shapiro, M.S. (1992) Polyglandular Autoimmune Syndrome Type I among Iranian Jews. Journal of Medical Genetics, 29, 824-826. [Google Scholar] [CrossRef] [PubMed]
[11] Proust-Lemoine, E., Saugier-Veber, P. and Wémeau, J.L. (2012) Polyglandular Autoimmune Syndrome Type I. La Presse Médicale, 41, e651-e662. [Google Scholar] [CrossRef] [PubMed]
[12] Schulz, L. and Hammer, E. (2020) Autoimmune Polyglan-dular Syndrome Type II with Co-Manifestation of Addison’s and Graves’ Disease in a 15-Year-Old Boy: Case Report and Literature Review. Journal of Pediatric Endocrinology and Metabolism, 33, 575-578. [Google Scholar] [CrossRef] [PubMed]
[13] 李晶晶, 余本富. 自身免疫性多内分泌腺病综合征Ⅱ型一例报道及文献复习[J]. 中华临床医师杂志(电子版), 2020, 14(9): 746-748.
[14] Frommer, L. and Kahaly, G.J. (2019) Autoimmune Polyendocrinopathy. The Journal of Clinical Endocrinology & Metabolism, 104, 4769-4782. [Google Scholar] [CrossRef] [PubMed]
[15] Kahaly, G.J., Zimmermann, J., Hansen, M.P., Gundling, F., Popp, F. and Welcker, M. (2017) Endocrinology and Interdisciplinary Consultation in Internal Medicine: Illustrated Using the Example of Polyglandular Autoimmune Syndrome. Der Internist, 58, 308-328. [Google Scholar] [CrossRef] [PubMed]
[16] Kahaly, G.J. (2012) Polyglandular Autoimmune Syndrome Type II. La Presse Médicale, 41, e663-e670. [Google Scholar] [CrossRef] [PubMed]
[17] Weinstock, C., Matheis, N., Barkia, S., Haager, M.-C., Janson, A., Marković, A., et al. (2011) Autoimmune Polyglandular Syndrome Type 2 Shows the Same HLA Class II Pattern as Type 1 Diabetes. Tissue Antigens, 77, 317-324. [Google Scholar] [CrossRef] [PubMed]
[18] Majeroni, B.A. and Patel, P. (2007) Autoimmune Polyglandular Syndrome, Type II. American Family Physician, 75, 667-670.
[19] 金雨, 杨涛. 自身免疫性多发性内分泌腺病综合征[J]. 内科急危重症杂志, 2015, 21(4): 259-262.
[20] Graves, L., Klein, R.M. and Walling, A.D. (2003) Addisonian Crisis Precipitated by Thyroxine Therapy: A Complication of Type 2 Autoimmune Polyglan-dular Syndrome. Southern Medical Journal, 96, 824-827.
[21] Gouveia, S., Gomes, L., Ribeiro, C. and Carrilho, F. (2013) Screening for Autoimmune Polyglandular Syndrome in a Cohort of Patients with Type 1 Diabetes Mellitus. Arquivos Brasileiros de Endocrinologia & Metabologia, 57, 733-738. [Google Scholar] [CrossRef] 

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