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在NKX2-1相关疾病中甲状腺功能的系统性审查:查和诊断
Beatriz Carmona-Hidalgo1, Carmen Martín-Gómez1,2, Estefanía Herrera-Ramos3
1Health Technology Assessment Area-AETSA, Andalusian Public Foundation for Progress and Health ("Fundación Progreso y Salud"-"FPS"), Seville, Spain.
PloS one
|July 11, 2024
概括
在NKX2-1相关疾病 (NKX2-1-RD) 中对内分泌问题的查需要标准化. 早期发现先天性甲状腺功能低下症 (CH) 对于预防智力障碍至关重要,但目前的方法差异很大.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 与NKX2-1相关的疾病 (NKX2-1-RD) 影响肺部,甲状腺和大脑发育,通常是由NKX2-1基因改变引起的.
- 先天性甲状腺功能低下症 (CH) 是NKX2-1-RD中常见的内分泌问题,如果不治疗,可能会导致不可逆转的智力障碍.
研究的目的:
- 系统地审查NKX2-1-RD患者内分泌异常的查和诊断技术的现有证据.
- 评估现有识别内分泌变化的方法的有效性.
主要方法:
- 按照PRISMA指南进行系统审查.
- PICO框架用于解决NKX2-1-RD中的内分泌疾病的查和诊断.
- 包括遗传确认的患有甲状腺功能低下症的患者;数据独立提取和审查.
主要成果:
- 包括46项研究 (113名患者);CH是最常见的 (45%).
- 只有21%的新生儿通过TSH进行了新生儿查;TSH值变化,使检测复杂化.
- 诊断时间有所不同 (35%新生儿,42%成年人);其他缺陷是后来发现的. 基因型-表型相关性因变异性而具有挑战性.
结论:
- 对NKX2-1-RD的标准化内分泌查方案是必不可少的.
- 为了准确的诊断,需要一致的方法和激素值水平.
- 优化早期查和诊断策略对于管理NKX2-1-RD至关重要.
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