当一个腺体首先说话时:由孤立的甲状腺功能低下症揭露的自身免疫多胞胎症综合征1型 (APS-1)
Manal Mustafa1, Abdullah Sabsabee2, Mohamad Sabsabee3
1Pediatric Endocrinology, Al Jalila Children's Specialty Hospital, Dubai, ARE.
Cureus
|February 23, 2026
概括
1型自身免疫多胞胎症综合征 (APS-1) 可以出现隔离性甲状腺功能低下症多年. 早期对AIRE基因突变的基因测试对于诊断APS-1和预测其他自身免疫性疾病至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 免疫学 免疫学 免疫学
背景情况:
- 1型自身免疫多胞胎病综合征 (APS-1) 是一种罕见的遗传性疾病.
- 它是由AIRE基因的突变引起的,通常涉及缺甲状腺症,候群病和上腺功能不充分.
- 低甲状腺功能障碍通常是最早的迹象,但孤立的表现可能会推迟诊断.
研究的目的:
- 报告一个APS-1病例与长期孤立的甲状腺功能低下症呈现.
- 为了突出表型变异性和APS-1表现的延迟发病.
- 强调早期基因检测在患有隔离性甲状腺功能低下症的儿童中的重要性.
主要方法:
- 一个儿童被诊断患有严重的低血症和低甲状腺症的病例报告.
- 对自身免疫和内分泌异常进行广泛的检查.
- 基因检测显示同卵性可能致病的AIRE基因突变.
主要成果:
- 这名患者在4岁时出现了严重的副副甲状腺功能低下症,没有其他最初的自身免疫发现.
- 基因检测证实了由于AIRE基因突变导致的APS-1.
- 粘膜皮肤候群病 (指甲真菌感染) 在三年后,在七岁时出现.
结论:
- 隔离性甲状腺功能低下症可能是APS-1的唯一表现,持续数年.
- 现型变异性和延迟的疾病演变是APS-1的特征.
- 在患有下甲状腺症的儿童中,早期对AIRE突变的基因查有助于及时诊断和管理APS-1.
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