在成年患有青少年帕吉特病的成年人中长期使用德诺苏马布治疗
Stergios A Polyzos1, Konstantinos Anastasilakis2, Tim Cundy3
1First Laboratory of Pharmacology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece. spolyzos@auth.gr.
Calcified tissue international
|April 13, 2025
概括
长期的denosumab治疗有效地管理了两个成年人的青少年帕杰特病 (JPD),使性酸酶 (ALP) 正常化并改善骨健康. 然而,德诺苏马布并没有预防视网膜病变,这表明潜在的眼睛风险.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 骨的新陈代谢 骨的新陈代谢
背景情况:
- 青少年帕杰特病 (JPD) 是一种罕见的遗传疾病,由TNFRSF11B基因突变引起,导致骨转化加速.
- 目前对JPD的治疗方法往往是经验性的,双酸盐显示了暂时的疗效.
研究的目的:
- 评估在患有JPD的成年患者中德诺苏马布的长期安全性和疗效.
- 评估德诺苏马布对骨标记,骨疼痛,运动能力和潜在的非骨并发症的影响.
主要方法:
- 两名患有同卵性"巴尔干"突变的成年JPD患者的病例报告,他们接受了超过12年的denosumab治疗.
- 生物化学标记物 (性酸酶),骨症状和眼睛健康的监测.
主要成果:
- 德诺苏马布使性酸酶水平正常化,并改善了这两名患者的骨疼痛和运动能力.
- 在治疗期间,没有出现新的骨折或听力恶化.
- 一名患者经历了视力丧失,用抗VEGF疗法治疗,这表明德诺苏马布可能无法预防视网膜病变.
结论:
- 长期的德诺苏马布治疗似乎是安全的和有效的骨表现的JPD在成年人.
- 眼部并发症,如视网膜病变,尽管在denosumab治疗,仍然可能发生.
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