病例报告:在围产期低酸盐症中对标准剂量阿斯酶α的低于最佳反应表明需要个性化剂量
Danijela Petković Ramadža1,2, Tamara Žigman1,2, Mislav Čavka2,3
1Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
对于严重的围产期低度症 (HPP),可能需要更高剂量的asfotase alfa来有效治疗骨问题. 本案例研究强调了通过量身定制的HPP治疗改善了运动能力和骨健康.
科学领域:
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学和基因组学 在
- 药理学 药理学是指药理学的学科.
背景情况:
- 低度症 (HPP) 是一种罕见的遗传代谢障碍,由缺少组织非特异性性酸酶引起,导致骨和牙矿化受损.
- 严重的HPP呈现出严重的并发症,包括呼吸道和神经症状,使患者管理复杂化.
- 阿尔法酸酶是一种酶替代疗法,已批准用于儿科HPP的骨表现.
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