在1型和3型高氏病中进行酶替代治疗
B Bembi1, M Zanatta, M Carrozzi
1Istituto di Clinica Pediatrica, Università di Trieste, IRCCS Burlo Garofolo, Italy.
Lancet (London, England)
|December 17, 1994
概括
用葡萄糖酶酶替代疗法改善了高氏病患者的病情,包括那些神经参与的人. 低剂量,每两周一次的输液对1型高氏病有效,降低了治疗成本.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 酶替代疗法 (ERT) 改善了高氏病1型患者的预期寿命,而没有神经系统的参与.
- 在Gaucher病患者中ERT的疗效与神经参与仍然在很大程度上是未知的.
- 氏病是一种溶酶体储存障碍,由缺乏葡萄糖大脑酶活性引起.
研究的目的:
- 评估静脉注射阿尔格卢塞拉酶在意大利1型和3型高氏病患者的疗效和安全性.
- 评估ERT对临床表现的影响,包括神经症状和生长.
- 调查基因型-表型相关性和特定突变的频率.
主要方法:
- 治疗12名意大利患者 (9种类型1,3种类型3) 静脉注射各剂量和输液频率的葡萄糖酶.
- 监测临床参数,如生长,器官大小,血液学指数和神经状态.
- 基因型分析以确定突变,特别是1448C等位基因.
主要成果:
- 所有患者均出现临床改善,包括儿童恢复生长,脏和肝脏大小减少.
- 一名患有神经症状的3型患者在治疗2年后表现出精神运动和智商的改善.
- 实验室测试表明血红蛋白的快速增加和血小板缺血的缓慢反应;临时的低血症发生在4名患者中.
- 观察到1448C突变的高频率 (54.5%),携带者来自意大利特定地区.
结论:
- 静脉注射的葡萄糖酶在治疗1型和3型高氏病方面都有效,包括神经参与的患者.
- 低剂量,每两周一次的ERT治疗1型高氏病可能具有成本效益,并减少住院时间.
- 在某些意大利人群中,1448C突变很普遍,这表明潜在的创始人效应.
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