由于配方过度估计和FGF23影响,在X相关低血症中估计功能存在挑战
Sandrine Lemoine1,2,3,4,5, Aurélie De Mul1,2,3,4,5, Kevin Perge2,6
1Service de néphrologie, dialyse, exploration fonctionnelle rénale, hôpital Edouard Herriot, Hospices Civils de Lyon.
The Journal of clinical endocrinology and metabolism
|August 25, 2025
概括
估计的球过率 (eGFR) 在X链接低血症 (XLH) 患者中高估了真正的功能,有可能导致慢性病 (CKD) 的误归. 建议每年进行囊C检测以准确评估XLH.
科学领域:
- 肝脏病学
- 内分泌学
- 遗传学
背景情况:
- 用酸盐和维生素D类似物治疗X链接低血症 (XLH) 对脏健康有风险.
- 在XLH中评估功能是因为基于肌的EGFR可能会因为肌肉质量减少而高估真实GFR而复杂.
- 纤维细胞生长因子23 (FGF23) 可能影响GFR,可能导致过并进一步复杂化功能评估.
研究的目的:
- 将不同估计GFR (eGFR) 公式与成人XLH患者测量GFR (mGFR) 的准确性进行比较.
- 在XLH患者的小组中评估治疗后mGFR的变化.
- 在患有纤维性发育不良的儿科队列中研究FGF23水平和GFR之间的关系,这种情况也表现为FGF23过量.
主要方法:
- 一个单中心的回顾性研究,涉及成年XLH患者.
- 用CKD-EPIcreat和CKD-EPIcyst公式与mGFR进行比较,计算偏差,精度和准确性.
- 在开始服用布罗苏马布后评估mGFR变化,并分析儿科纤维发育不良的FGF23/ GFR相关性.
主要成果:
- 在20名XLH患者中,mGFR的中位数明显低于CKD-EPIcreat和CKD-EPIcyst的估计值.
- 与CKD-EPIcyst相比,CKD-EPIcreat在XLH中显示出更大的偏差和更低的准确性.
- 在burosumab治疗后观察到mGFR的降低,在儿科患者中发现FGF23和eGFR之间的中等相关性.
结论:
- 标准EGFR公式高估了XLH患者的GFR,导致慢性病错误分类的风险.
- 如果怀疑XLH的功能障碍,建议每年测量囊素C.
- 需要考虑FGF23对GFR的影响,特别是在接受布罗苏马布治疗的XLH患者中.
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