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患有天生的免疫缺陷的儿童的内分泌异常:单中心体验
Gonul Buyukyilmaz1, Keziban Toksoy Adiguzel1,2, Pınar Kocaay1
1Department of Pediatric Endocrinology, 639944 Ankara Bilkent City Hospital , Ankara, Türkiye.
Journal of pediatric endocrinology & metabolism : JPEM
|April 24, 2025
概括
内分泌疾病如自身免疫性甲状腺炎和1型糖尿病在患有天生的免疫错误 (IEI) 的儿童中很常见. 监测青春期发育和生殖腺功能对于管理这些疾病和改善患者结果至关重要.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 临床免疫学临床免疫学
- 遗传学 遗传学 是一个
背景情况:
- 免疫的先天性错误 (IEI) 涵盖了广泛的影响免疫系统功能的遗传疾病.
- 内分泌病变在被诊断为IEI的儿童中代表着显著的并发症,影响他们的整体健康和发育.
研究的目的:
- 总结和讨论在一组儿科患者中观察到的内分泌病变的患病率和类型,这些儿科患者具有先天性免疫错误.
- 要强调内分泌监测IEI儿童的重要性.
主要方法:
- 在2019年9月至2023年9月期间,对84名被诊断患有各种先天性免疫错误的儿科患者进行了回顾性分析.
- 在IEI队伍中评估与内分泌相关的诊断,包括甲状腺疾病,糖尿病和甲状腺功能低下症.
主要成果:
- 甲状腺疾病是最常见的内分泌病 (30.9%),其次是糖尿病 (20.2%).
- 特定的IEI综合征表现出明显的内分泌表现:在22q11.2删除综合征患者中,有15.6%的患者患有下甲状腺功能障碍症;在女性中,有过高性腺体缺陷症 (hypergonadotropic hypogonadism) 和严重的先天性中性质减退症.
- 在整体IEI患者组中,自身免疫性甲状腺炎和1型糖尿病被确定为最常见的内分泌疾病.
结论:
- 自免疫性甲状腺炎和1型糖尿病是患有天生的免疫错误的儿童最常见的内分泌并发症.
- 对于IEI儿童,建议定期监测青春期发育和生殖腺功能.
- 及时诊断和对内分泌病的量身定制管理对于提高生活质量和减轻IEI相关并发症至关重要.
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