在患有致病LRP5变体的患者接受罗莫苏祖马布治疗期间发生脊椎骨折
Evert F S van Velsen1,2, Mark Wijnen1,2, Galied S R Muradin3
1Department of Internal Medicine, Erasmus Medical Center, University Medical Center, 3015 CE, Rotterdam, the Netherlands.
JCEM case reports
|December 27, 2024
概括
罗莫苏祖马布在患有骨质疏松症和LRP5变体的患者中增加了骨矿物质密度,但发生了新的骨折. 需要对romosozumab进行进一步的研究.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 整形外科 整形外科 整形外科
背景情况:
- Wnt-β-catenin通路对骨强度至关重要;缺陷增加骨折风险.
- 斯克莱洛斯通过与低密度脂蛋白 (LDL) 受体相关蛋白 (LRP) 结合来抑制这种途径 5/6.6.
- 作为一种胆固醇抑制剂的罗莫苏祖马布 (Romosozumab) 可能在患有LRP5/6变异的患者中降低了疗效.
研究的目的:
- 为了评估romosozumab在患有严重骨质疏松症和致病性LRP5变体的患者中的效果.
- 为了评估骨矿物质密度 (BMD) 和骨折结果后罗莫苏祖马布治疗.
主要方法:
- 一位67岁患有骨质疏松症和异合致病原性LRP5变体的妇女的案例研究.
- 用罗莫苏祖马布治疗一年.
- 通过脊椎X射线监测BMD和脊椎骨折发生率.
主要成果:
- 罗莫苏祖马布治疗导致骨质量显著增加 (LS +58%,FN +23%).
- 尽管BMD增加了,但该患者经历了5次新的脊椎骨折.
- 该患者的基线是由于严重骨质疏松症造成的4个脊椎骨折.
结论:
- 罗莫苏祖马布可以增加LRP5功能丧失变体患者的BMD.
- 尽管BMD增加了,但新的骨折的发生需要进一步调查.
- 在LRP5/6受体有缺陷的患者中,罗莫祖马布的疗效需要进一步研究.
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