APS-I早期确诊方法(附1例病例报道)  

Early diagnostic method of APS-Ⅰ:one case report

作　　者：刘彩虹[1] 石岩[1] 阴怀清[1] 栗红[1] 范淑兰[1] 武师润[1] 原平飞[1] 

机构地区：[1]山西医科大学第一医院儿科,山西太原030001

出　　处：《中国医药导报》2009年第15期10-13,共4页China Medical Herald

基　　金：山西医科大学第一医院博士启动基金(YB0614)

摘　　要：目的:探讨自身免疫性多内分泌腺病综合征Ⅰ型(APS-Ⅰ)的早期确诊方法。方法:报道1例中国APS-Ⅰ病例,结合国外72例APS-Ⅰ患者的表型和基因型进行分析。结果:APS-Ⅰ除3种典型表现外,尚可合并20余种其他病症,临床表现复杂,依靠传统的诊断方法易误诊;APS-Ⅰ的致病基因为自身免疫调节因子(AIRE)基因,对可疑患者积极进行基因检测可明确诊断。结论:APS-Ⅰ比较罕见,基因检测可早期确诊临床进展不典型的APS-Ⅰ。Objective： To discuss the early diagnostic method of autoimmune polyendocrinopathy syndrome type I （APS- I ）. Methods： One APS- I patient in China was reported and the clinical manifestations and genetic test results about 72 patients with APS- I were analyzed. Results： There was an extremely variable combination of over 20 autoimmune endocrine and non-endocrine disorders in addition to the typical triad in the patients with APS- I, who were often misdiagnosed by the traditional diagnostic method. APS- I was an autosomal recessive disorder associated with mutations in the autoimmune reg ulator （AIRE） gene and the detection of AIRE gene mutations could facilitate early and precise diagnosis. Conclusion： APS- I is rare, and gene detection could earlier diagnose patients with APS- I of nontypical clinical progress.

关 键 词：APS-Ⅰ 自身免疫调节因子基因 突变 

分 类 号：R593.2[医药卫生—内科学]