低酸盐症:表现和对阿尔法酸酶的反应
F Alsarraf1, D S Ali2, K Almonaei3
1Division of Endocrinology and Metabolism, McMaster University, Hamilton, Ontario, Canada. Dr.farahaalsarraf@gmail.com.
概括
阿斯福特酶α (AA) 治疗显著改善肌肉强度,疼痛和运动能力在低酸盐症 (HPP) 患者. 这种酶替代疗法证明了这种罕见的骨疾病患者的良好耐受性和改善生活质量.
科学领域:
- 代谢性骨疾病 代谢性骨疾病
- 酶替代疗法是一种酶替代疗法.
- 遗传学 是一个遗传学.
背景情况:
- 低度症 (HPP) 是一种罕见的遗传代谢性骨疾病,由ALPL基因突变引起,导致骨矿化受损.
- 组织非特异性性酸酶 (TNSALP) 缺乏导致高的无机酸盐和变化的酸盐比率.
- 一种酶替代疗法阿斯酶α (AA) 在2015年被批准用于HPT治疗.
研究的目的:
- 评估阿斯福特酶阿尔法 (AA) 在低酸盐症 (HPP) 患者的疗效和安全性.
- 描述AA在HPP患者群体中具有异质呈现的临床结果和耐受性.
主要方法:
- 包括7名患者 (4名女性,3名男性) 诊断出HPP (通过DNA分析确认).
- 19-68岁的患者接受AA,剂量为6mg/kg/周.
- 平均随访时间为6个月.
主要成果:
- 在肌肉力量 (高达70%),肌肉疼痛,行走能力和步行距离 (高达100%) 中报告了显著的主观改善.
- 患者经历了增强的认知,情绪 (高达90%) 和能量水平 (高达75%).
- 一般来说,AA的耐受性很好;注射部位反应是最常见的不良反应,有1名患者因肌痛停止治疗.
结论:
- 用阿斯酶阿尔法 (AA) 治疗导致儿科和成人发病HPP的肌肉骨和认知症状的实质性主观改善.
- 在改善患者的生活质量方面,AA显示出显著的益处.
- 该疗法在大多数患者中耐受性良好,表明其作为HPP安全有效治疗的潜力.
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