代谢和怀孕的先天性错误
Kristen Murphey1, Iris Krishna2, Hong Li1
1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (Murphey and Li); Department of Pediatrics, Emory University School of Medicine & Children's Healthcare of Atlanta, Atlanta, GA (Li).
American journal of obstetrics & gynecology MFM
|June 13, 2024
概括
在新陈代谢的先天性错误中,改善生存率带来了独特的怀孕挑战. 本综述总结了妊娠期间这些复杂的代谢条件的风险和管理策略.
科学领域:
- 医学遗传学 医学遗传学
- 代谢障碍 代谢障碍 代谢障碍
- 生殖医学 生殖医学
背景情况:
- 诊断和治疗方面的进步提高了与代谢先天性错误 (IEM) 相关的个体在生育年龄的存活率.
- 怀孕显著改变了母亲的新陈代谢,由于荷尔蒙变化,从合成代谢转变为代谢状态,影响葡萄糖,氨基酸和脂质代谢.
- 孕产妇和胎儿的IEM都可能带来风险,需要在怀孕期间提供专门的护理.
研究的目的:
- 审查当前关于怀孕在患有代谢先天性错误的患者的文献.
- 概述妊娠期间IEM与母亲和胎儿相关的特定风险.
- 为怀孕期间IEM的管理提供基于证据的建议.
主要方法:
- 关于怀孕和新陈代谢的先天性错误的综合文献综述.
- 对IEM相关的怀孕期间代谢变化的分析.
- 从现有案例研究和文献中综合报告的风险和管理策略.
主要成果:
- 在IEM患者中,怀孕涉及复杂的代谢变化,包括葡萄糖生成,葡萄糖利用和蛋白质/脂质分解的变化.
- 孕产妇IEM可能会影响胎儿发育 (例如,基尿症),而胎儿IEM可能会影响孕产妇的健康 (例如,脂肪酸氧化障碍).
- 对于许多IEM存在有限的数据,强调需要仔细监测和个性化管理计划.
结论:
- 患有IEM妇女的怀孕需要专门的,多学科的护理,因为显著的代谢变化和潜在的双重风险对母亲和胎儿.
- 进一步的研究和数据收集对于优化怀孕期间各种代谢先天错误的管理策略至关重要.
- 积极管理,包括怀孕前咨询和密切监测,对于IEM怀孕的良好结果至关重要.
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