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

doi:10.12114/j.issn.1007-9572.2019.00.294

中国全科医学 ›› 2019, Vol. 22 ›› Issue (35): 4401-4405.DOI: 10.12114/j.issn.1007-9572.2019.00.294

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

相萍萍1，2，苏晓辉3，狄红杰1，2，刘超1，2，曹雯1，2*

1.210028江苏省南京市，南京中医药大学附属中西医结合医院内分泌科
2.210028江苏省南京市，江苏省中医药研究院瘿病证治重点研究室
3.221400江苏省新沂市中心医院
*通信作者：曹雯，副主任医师；E-mail：caow1900@126.com

出版日期:2019-12-15 发布日期:2019-12-15
基金资助:
国家自然科学基金面上基金（81471010）；国家中医药管理局重大疑难疾病中西医临床协作试点项目瘿气（Graves病、甲状腺机能亢进症）（2018）

Autoimmune Polyendocrinopathy Syndrome Type Ⅱ：a Case Report and Literature Review　

XIANG Pingping1，2，SU Xiaohui3，DI Hongjie1，2，LIU Chao1，2，CAO Wen1，2*

1.Department of Endocrinology，Affiliated Hospital of Integrated Traditional Chinese and Western Medicine，Nanjing University of Chinese Medicine，Nanjing 210028，China
2.Key Research Laboratory of Gall Disease Syndrome and Treatment，Jiangsu Province Academy of Traditional Chinese Medicine，Nanjing 210028，China
3.Xinyi Central Hospital，Xinyi 221400，China
*Corresponding author：CAO Wen，Associate chief physician；E-mail：caow1900@126.com

Published:2019-12-15 Online:2019-12-15

分享到

摘要/Abstract

摘要： 自身免疫性多内分泌腺病综合征（APS）即同一患者同时或先后出现2种或2种以上内分泌腺自身免疫疾病。本文报道于2018-07-10入住南京中医药大学附属中西医结合医院1例甲状腺功能亢进（Graves病）合并1型糖尿病的APSⅡ型患儿。患儿为12岁女性，因颈前肿大伴双眼突出6年就诊，多年抗甲状腺药物治疗甲状腺功能亢进及突眼效果差，病程中伴发1型糖尿病。予以甲状腺切除术，并以胰岛素控制1型糖尿病，使得甲状腺功能亢进、甲状腺相关性眼病、1型糖尿病得以良好控制。

关键词: 甲状腺功能亢进症；Graves眼病；糖尿病, 1型；多内分泌腺疾病, 自身免疫性；病例报告

Abstract: Autoimmune polyendocrinopathy syndrome （APS） refers to a group of syndromes comprising two or more kinds of endocrine autoimmune diseases.We reported a case with APS type Ⅱ combined with Graves disease and type 1 diabetes who admitted to Affiliated Hospital of Integrated Traditional Chinese and Western Medicine，Nanjing University of Chinese Medicine on 10 July 2018.A 12-year-old girl had enlarged neck mass and exorbitsm for 6 years.Antithyroid drugs had poor therapeutic effects，and type 1 diabetes was confirmed in the course of disease.Thyroidectomy and insulin control of type 1 diabetes mellitus can control hyperthyroidism，thyroid-associated ophthalmopathy and type 1 diabetes mellitus.
Hyperthyroidism；Graves ophthalmopathy；Diabetes mellitus，type 1；Polyendocrinopathies，autoimmune；Case reports

相萍萍,苏晓辉,狄红杰,等. 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. DOI: 10.12114/j.issn.1007-9572.2019.00.294.
XIANG Pingping,SU Xiaohui,DI Hongjie, et al. Autoimmune Polyendocrinopathy Syndrome Type Ⅱ：a Case Report and Literature Review　[J]. Chinese General Practice, 2019, 22(35): 4401-4405. DOI: 10.12114/j.issn.1007-9572.2019.00.294.

参考文献

［1］HUSEBYE E S，ANDERSON M S，K?MPE O.Autoimmune polyendocrine syndromes［J］．N Engl J Med，2018，378（12）：1132-1141．DOI：10.1056/NEJMra1713301.
［2］NAGAMINE K，PETERSON P，SCOTT H S，et al．Positional cloning of the APECED gene［J］．Nat Genet，1997，17（4）：393-398．DOI：10.1038/ng1297-393.
［3］EISENBARTH G，WILSON P，WARD F，et al．HLA type and occurrence of disease in familial polyglandular failure［J］．N Engl J Med，1978，298（2）：92-94．DOI：10.1056/NEJM197801122980209.
［4］BOTTINI N，MUSUMECI L，ALONSO A，et al．A functional variant of lymphoid tyrosine phosphatase is associated with type Ⅰ diabetes［J］．Nat Genet，2004，36（4）：337-338．DOI：10.1038/ng1323.
［5］UEDA H，HOWSON J M，ESPOSITO L，et al．Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease［J］．Nature，2003，423（6939）：506-511．DOI：10.1038/nature01621.
［6］MICHELS A W，EISENBARTH G S.Autoimmune polyendocrine syndrome type 1 （APS-1） as a model for understanding autoimmune polyendocrine syndrome type 2 （APS-2）［J］．J Intern Med，2009，265（5）：530-540．DOI：10.1111/j.1365-2796.2009.02091.x.
［7］POPLER J，ALIMOHAMMADI M，K?MPE O，et al．Autoimmune polyendocrine syndrome type 1：utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab［J］．Pediatr Pulmonol，2012，47（1）：84-87．DOI：10.1002/ppul.21520.
［8］GUO C J，LEUNG P S C，ZHANG W C，et al．The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome （APS-1）［J］．Autoimmun Rev，2018，17（1）：78-85．DOI：10.1016/j.autrev.2017.11.012.
［9］BARTALENA L，BALDESCHI L，BOBORIDIS K，et al．The 2016 European Thyroid Association/European Group on Graves' orbitopathy guidelines for the management of Graves' orbitopathy［J］．Eur Thyroid J，2016，5（1）：9-26．DOI：10.1159/000443828.
［10］ABULAYHA A，BREDAN A，EL ENSHASY H，et al．Rituximab：modes of action，remaining dispute and future perspective［J］．Future Oncol，2014，10（15）：2481-2492．DOI：10.2217/fon.14.146.
［11］SALVI M，VANNUCCHI G，CURRò N，et al．Efficacy of B-cell targeted therapy with rituximab in patients with active moderate to severe Graves' orbitopathy：a randomized controlled study［J］．J Clin Endocrinol Metab，2015，100（2）：422-431．DOI：10.1210/jc.2014-3014.
［12］RUDNICKI M.Rituximab for treatment of membranoproliferative glomerulonephritis and C3 glomerulopathies［J］．Biomed Res Int，2017，2017：2180508．DOI：10.1155/2017/2180508.
［13］ROBERTS A，JAMES J，DHATARIYA K，et al．Management of hyperglycaemia and steroid （glucocorticoid） therapy：a guideline from the Joint British Diabetes Societies （JBDS） for Inpatient Care group［J］．Diabet Med，2018，35（8）：1011-1017．DOI：10.1111/dme.13675.
［14］ROSS D S，BURCH H B，COOPER D S，et al．2016 American Thyroid Association guidelines for diagnosis and management of hyperthyroidism and other causes of thyrotoxicosis［J］．Thyroid，2016，26（10）：1343-1421．DOI：10.1089/thy.2016.0229.

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

Autoimmune Polyendocrinopathy Syndrome Type Ⅱ：a Case Report and Literature Review

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 0

编辑推荐

Metrics

留言