[1]李杨,万菁菁,李零燕,等.自身免疫性多发内分泌腺病综合征Ⅰ型研究进展[J].国际内分泌代谢杂志,2017,37(06):426-429.
　Li Yang,Wan Jingjing,Li Lingyan,et al.Recent progress of autoimmune polyglandular syndrome type Ⅰ[J].International Journal of Endocrinology and Metabolism,2017,37(06):426-429.
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自身免疫性多发内分泌腺病综合征Ⅰ型研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
37
期数:
2017年06期
页码:
426-429
栏目:
综述
出版日期:
2017-11-20

文章信息/Info

Title:
Recent progress of autoimmune polyglandular syndrome type Ⅰ
作者:
李杨; 万菁菁; 李零燕; 孙家忠
430071 武汉大学中南医院内分泌科
Author(s):
Li Yang;  Wan Jingjing;  Li Lingyan;  Sun Jiazhong.
Department of Endocrinology, Zhongnan Hospital, Wuhan University, Wuhan 430071, China
关键词:
自身免疫性多发内分泌腺病综合征;  原发性肾上腺皮质功能减退症;  甲状旁腺功能减退症;  慢性黏膜皮肤念珠菌病
Keywords:
Autoimmune polyglandular syndrome;  Addison's disease;  Hypoparathyroidism;  Mucocutaneous candidiasis
文献标志码:
A
摘要:
自身免疫性多发内分泌腺病综合征Ⅰ型(APSⅠ)是一种罕见的由于自身免疫调节(AIRE)基因突变导致的常染色体隐性遗传病。其临床表现主要包括,原发性肾上腺皮质功能减退症、甲状旁腺功能减退症和慢性黏膜皮肤念珠菌病,三者中至少存在2个,同时也可能存在其他的内分泌或非内分泌疾病。其治疗主要包括激素替代、抗感染以及免疫抑制疗法,通常预后不佳。近30余年来中国共报道了17例APSⅠ患者,对其组成疾病种类及发病率、起病年龄、AIRE基因突变等进行总结,有助于为临床提供参考。
Abstract:
Autoimmune polyglandular syndrome type Ⅰ(APS Ⅰ)is a rare autosommal recessive disease caused by mutations in the AIRE gene. Its clinical symptoms mainly include:Addison's disease, hypoparathyroidism, mucocutaneous candidiasis. At least two of the three symptoms should occur. Other endocrine or nonendocrine diseases may occur, too. The therapy mainly includes hormone replacement, anti-infection and immunosuppressive treatment. The prognosis is usually poor. There are 17 cases of Chinese patients with APSⅠduring the past 30 years which had been summarized on components, incidence, onset age and AIRE gene mutations in order to provide clinical reference.

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备注/Memo

备注/Memo:
通信作者:孙家忠,Email:sjz300@163.com
更新日期/Last Update: 2017-11-30