APS-I早期确诊方法(附1例病例报道)
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[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。
[关键词] APS-Ⅰ；自身免疫调节因子基因；突变
[中图分类号] R593.2[文献标识码]A [文章编号]1673-7210(2009)05(c)-010-04
Early diagnostic method of APS-Ⅰ: one case report
LIU Caihong, SHI Yan*, YIN Huaiqing, LI Hong, FAN Shulan, WU Shirun, YUAN Pingfei
(Department of Pediatrics, the First Hospital of Shanxi Medical University, Taiyuan 030001, China)
[Abstract] Objective: To discuss the early diagnostic method of autoimmune polyendocrinopathy syndrome type Ⅰ(APS-Ⅰ). Methods: One APS-Ⅰpatient in China was reported and the clinical manifestations and genetic test results about 72 patients with APS-Ⅰwere 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 regulator (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.
[Key words] APS-Ⅰ; AIRE; Mutation
自身免疫性多内分泌腺病综合征Ⅰ型(autoimmune polyendocrinopathy syndrome type Ⅰ, APS-Ⅰ)是由自身免疫调节因子(autoimmune regulator, AIRE)基因突变引起的隐性遗传病，主要表现为慢性皮肤念珠菌病(chronic mucocutaneous candidiasis, CMC)、原发性甲状旁腺功能减退(primary hypoparathyroidism, HP)和原发性肾上腺皮质功能不全(primary adrenocortical insufficiency, AI)三联征[1]。首发症状常在儿童期，20余种伴随症状直至50岁仍可发生，仅靠临床表现早期明确诊断有一定的困难。本文报道1例中国APS-Ⅰ患者，并结合国外72例APS-Ⅰ患者的表型和基因型进行分析，进一步明确该病的早期诊断方法。
1 对象与方法
1.1 病例报道
患儿，女，14岁，主因“头昏伴干呕半个月，加重2 d”入院。既往史：4岁时因发作性全身抽搐诊断为癫痫，间断口服抗癫痫药2年，效果不佳，6岁确诊为HP。同期发现有口腔溃疡，口服和外用大扶康效果明显。9岁因“纳差、呕吐2 d”收入我科，根据实验室检查诊断为AI，给予激素替代治疗。12岁再次因频繁呕吐入院，诊断为多腺体功能低下综合征。此外，4岁时发现夜间视力下降，误诊为夜盲症，服用鱼肝油等效不佳，5岁诊断为白内障，6岁行右眼晶状体摘除术，目前右眼失明，左眼仅有微弱的光感。6岁患水痘，自愈。9岁因尿频、尿急10 d住院，诊断为泌尿系统感染。7岁及13岁先后2次行龋齿修补。个人史：患儿系第2胎第1产(第1胎为计划性人工流产)，因过期妊娠剖宫娩出 ......
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