生物化学查是否足以指导感应受体基因突变分析,用于诊断家族性低性性高血症? 一个回顾性研究研究
Alexandros N Flaris1, Taylor O Julsrud1, Robert A Vierkant2
1Endocrine Surgery Division, Department of Surgery, Mayo Clinic, Rochester, MN.
Surgery
|October 10, 2024
概括
使用尿和与肌素清除率的家族性低血性高血症 (FHH) 查指南表现不佳. 除了尿液测量之外的基因检测可能会改善FHH的诊断.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 生物化学 生化学
背景情况:
- 美国内分泌外科医生协会 (AAES) 建议为查家族性低性高血症 (FHH) 制定特定的值.
- 这些建议包括24小时尿液<100毫克和与肌素清除比<1%用于遗传评估.
- 这些生物化学标记物在识别FHH的临床实用性需要进一步研究.
研究的目的:
- 评估当前AAES对FHH的查指南的有效性.
- 探索疑似FHH的基因检测患者的生物化学和临床概况.
- 为了确定尿和与肌素清除率的诊断性能,确定FHH.
主要方法:
- 在2005年至2024年间对401名接受过感应受体基因分析的患者进行了回顾性审查.
- 生物化学数据的分析,包括血清,尿液和副甲状腺激素水平.
- 使用接收器操作特征 (ROC) 曲线评估尿液和与肌素清除率的诊断准确性.
主要成果:
- 在401名患者中,44名 (11%) 检测出FHH突变呈阳性.
- 对FHH突变阳性患者的尿液中位数 (82毫克) 与阴性患者 (110毫克) 相比较较低.
- 在识别FHH时,ROC曲线分析表明尿 (AUC:0.55) 和与肌素清除率 (AUC:0.63) 的表现不佳.
结论:
- 目前的AAES查指南基于尿中的和与肌素清除率,在诊断FHH时的准确性有限.
- 在FHH和原发性甲状腺功能障碍症之间存在显著的生物化学重叠,这挑战了传统的诊断标准.
- 建议增加除生物化学标记之外的基因测试的使用,以改善FHH患者的识别.
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