唐氏综合征患者的甲状腺功能低下症:患病率和与先天性心脏缺陷的关联
Francesca Gorini1, Alessio Coi1, Anna Pierini1,2
1Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
Children (Basel, Switzerland)
|May 25, 2024
概括
在唐氏综合征 (DS) 患者中,先天性甲状腺功能低下症 (CH) 和明显的甲状腺功能低下症 (OH) 更常见. 冠心病与先天性心脏缺陷 (CHD) 的增加有关,而VSD与DS中的OH有关.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 唐氏综合征 (DS) 与更高的内分泌疾病发病率有关,特别是甲状腺功能低下症.
- 先天性甲状腺功能低下症 (CH) 和明显的甲状腺功能低下症 (OH) 是DS患者的重大问题.
- 在DS患者中,先天性心脏缺陷 (CHD) 也非常普遍.
研究的目的:
- 确定患有DS的患者中CH和OH的患病率.
- 调查CH和OH之间的关联以及DS患者中CHD的存在.
- 分析随着时间的推移以及与早产相关的CH和OH流行趋势.
主要方法:
- 在意大利托斯卡纳地区 (2003-2017) 使用先天性缺陷和罕见疾病登记册的基于人口的研究.
- 包括所有被诊断患有DS的活产儿.
- 多变量逻辑回归分析以评估CH/OH和CHD之间的关联.
主要成果:
- 该队列包括228名DS患者.
- CH的患病率为11.4%,OH的患病率为12.7%.
- 在2010-2017年和早产婴儿中观察到CH患病率增加. 冠心病与较高的冠心病发病率 (aOR=2.24) 和与OH相关的VSD (aOR=3.07) 相关.
结论:
- 与一般人群相比,DS患者的CH和OH患病率较高.
- DS患者的CHD与CHD风险增加有关.
- 心室隔膜缺陷 (VSDs) 显示在DS中与明显的甲状腺功能低下症有显著的关联.
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