在接受酶替代疗法时,严重的高血症与围产期低度症相关
Mostafa Salama1, Alaa Al Nofal1, Peter Tebben1
1Division of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, MN 55905, USA.
JCEM case reports
|April 16, 2025
概括
这项研究详细介绍了一个婴儿患有低酸盐症 (HPP) 严重高血症的病例,尽管接受了酶替代疗法. 辅助素治疗有效地使水平正常化,突出了其在管理与HPP相关的高血症中的潜在作用.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 低酸性 (HPP) 是一种罕见的遗传疾病,由ALPL基因的致病变异引起,导致由于组织非特异性性酸酶 (TNSALP) 活性减少,导致骨矿化缺陷.
- 高血症是一个显著的并发症,特别是在 HPP 的产周和婴儿形式中,用阿斯酶α (AA) 的酶替代疗法用于管理.
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