在低度症中使用双酸盐造成的非典型骨折,改善了对特里巴拉提德治疗的骨反应
Edwin Mora Garzon1, Daniel Betancourt Zuluaga2, Juan David Salazar Ospina3
1Division of Endocrinology and Metabolism, Department of Internal Medicine and Epidemiology, S.E.S. Hospital Universitario de Caldas, Universidad de Caldas, Manizales 170003, Colombia.
JCEM case reports
|January 8, 2026
概括
低度症是一种罕见的骨疾病,经常被误诊. 这一案例凸显出,低性酸酶与骨折的低性酸酶值得评估,因为双酸盐可能会使结果恶化.
科学领域:
- 内分泌学 在内分泌学.
- 代谢性骨疾病 代谢性骨疾病
- 罕见疾病 罕见疾病
背景情况:
- 低度症 (HPP) 是一种罕见的遗传代谢性骨疾病.
- 它的特点是骨矿化缺陷,并且由于症状与其他骨疾病重叠,经常被误诊.
- 低血清性酸酶 (ALP) 是一个关键的诊断标志物.
研究的目的:
- 在一个成年女性中提出一个错误诊断的低酸症病例.
- 为了说明双酸盐治疗在HPP中的潜在不良影响.
- 强调在患有不明原因骨折和低ALP的患者中考虑HPP的重要性.
主要方法:
- 一个中年妇女的病例报告,她有史以来患有恶心病和骨质发育不完美的诊断.
- 审查她的治疗史,包括佐莱德酸盐和特里巴拉提德.
- 与治疗相关的骨矿物质密度变化和骨折发展的分析.
主要成果:
- 这名患者最初被误诊并接受了佐勒德龙酸治疗,随后出现了非典型的股骨骨折.
- 随后的teriparatide治疗导致骨矿物质密度显著改善.
- 在整个诊断过程中,她注意到持续低的ALP水平.
结论:
- 持久的低ALP与脆弱性或非典型骨折应立即评估低度.
- 像双酸盐这样的抗吸收剂可能会在HPP中导致非典型骨折,因此应避免使用.
- 酶替代疗法 (asfotase alfa) 是疾病特异性治疗;当asfotase alfa无法使用时,可选择的成年人可能会受益于合成代谢疗法 (teriparatide).
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