在怀孕和哺乳期的酶替代疗法在晚发佩病的晚发佩病
Magdalena Bachmann1, David Kasper2, Sabine Scholl-Bürgi1
1Department of Pediatrics I, Medical University of Innsbruck, Anichstrasse 35, Innsbruck, 6020, Austria.
International breastfeeding journal
|December 30, 2025
概括
佩病的酶替代疗法 (ERT) 在怀孕和哺乳期间是安全的. 母乳中的酸α-葡萄糖酶活性与健康妇女相比,婴儿的发育正常,支持ERT的延续.
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:
- 庞佩病是一种由酸α-葡萄糖酶 (GAA) 缺乏引起的遗传性溶解体储存障碍,导致糖原积累和肌肉功能障碍.
- 自2006年以来,酶替代疗法 (ERT) 已可用,但其在怀孕和哺乳期间的使用需要进一步的安全数据.
- 有限的病例报告表明,在这些关键时期,ERT可能是安全的.
研究的目的:
- 评估在怀孕和哺乳期间继续酶替代疗法 (ERT) 的安全性和可行性,在晚发佩病的妇女中.
- 评估佩病患者接受ERT的妇女母乳中的酸α-葡萄糖酶活性.
- 报告在怀孕和哺乳期间接受ERT治疗的波佩氏病母亲产生的婴儿的发育结果.
主要方法:
- 一系列病例涉及三个患有佩病晚发症的妇女,她们在五次怀孕和随后的哺乳期继续接受ERT.
- 在哺乳期接受ERT的两名庞佩病患者母乳样本中测量了酸α-葡萄糖酶活性.
- 将母乳中的GAA活性与5名健康哺乳妇女的GAA活性进行比较.
主要成果:
- 在所有五个怀孕中,ERT在整个怀孕和哺乳期成功地延续了.
- 患有庞培病的妇女母乳中的酸α-葡萄糖酶活性处于健康妇女观察到的正常范围内.
- 所有五个婴儿都表现出适合年龄的生长和发育,表明母亲暴露于ERT没有不良影响.
结论:
- 在怀孕和母乳养期间继续ERT对于晚发佩病的妇女来说是可行的和安全的.
- 母亲ERT似乎不会对婴儿发育或母乳酶活性产生负面影响.
- 这些发现支持在怀孕和哺乳期期间在庞佩病患者中继续进行ERT,促进母乳养作为重要营养来源.
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