产前诊断和治疗胎儿血管新素转化酶缺乏症
Hang-Jing Tan1,2, Wen-Yan Jian3, Chao Lv4
1Institute of Reproduction and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.
Prenatal diagnosis
|September 25, 2023
概括
使用整体外体序列测序进行产前诊断,发现胎儿患有严重的血管酶转化酶 (ACE) 突变. 连续的乳液输注和早产导致症状自发消失,功能得到改善.
科学领域:
- 遗传学 是一个遗传学.
- 周围生理学 周围生理学
- 生物化学 生物化学
背景情况:
- 持续性橄水症对胎儿发育和预后构成重大风险.
- 了解胎儿疾病的遗传病因对于有针对性的干预至关重要.
- ангиотензин转化酶 (ACE) 在氨酸- ангиотензин系统中起着至关重要的作用,影响血压和液体平衡.
研究的目的:
- 通过产前诊断来确定持续性橄水的遗传原因.
- 积极管理和治疗被诊断患有严重ACE突变的胎儿.
- 为了实现受影响婴儿的良好预后.
主要方法:
- 整个外体序列测序 (WES) 在胎儿和父母的DNA上进行.
- 在整个怀孕期间,连续注射乳液.
- 产后评估包括测量血管素转化酶 (ACE) 活性,血管素II (Ang II) 水平和补偿酶 (CE) 活性.
主要成果:
- 在胎儿的产前发现了严重的ACE突变.
- 婴儿早产,呈现低血压和无尿的自发解脱.
- 尽管几乎没有ACE活性,但观察到Ang II和CE水平升高,功能恢复显著.
结论:
- 整体外体序列测序使得胎儿ACE突变的产前诊断成为可能.
- 在胎儿ACE缺乏症的情况下,连续的乳液输注可以促进妊娠的延续.
- 补偿机制和早产可能会改善患有ACE缺乏症的婴儿的治疗结果,并可能保持功能.
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