产前双胞胎与皮尔森综合征的产前呈现
Leonor Castro1, Ana C Ferreira2, Álvaro Cohen3
1Pediatric and Neonatal Intensive Care Unit, Hospital Central do Funchal, Av. Luís de Camões, nº 57 - 9004-514 Funchal, Madeira, Portugal.
Case reports in perinatal medicine
|March 5, 2025
概括
皮尔森综合征是一种罕见的线粒体疾病,可以在产前表现出来. 本案例报告详细介绍了因严重胎儿贫血和多系统功能障碍而被诊断出皮尔森综合征的早产双胞胎.
科学领域:
- 线粒体医学 线粒体医学
- 遗传学和基因组学 遗传学和基因组学
- 新生儿科学 新生儿科学
背景情况:
- 皮尔森综合征是一种罕见的线粒体DNA (mtDNA) 删除障碍.
- 它通常在婴儿期出现多系统表现,包括 sideroblastic 贫血和胰腺功能障碍.
- 预后通常不好,往往导致早期死亡.
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