儿童SOX17相关肺高血压:一个独特的发育和临床综合征
Mary P Mullen1, D Dunbar Ivy2, Nidhy P Varghese3
1Department of Cardiology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
The Journal of pediatrics
|November 27, 2024
概括
患有SOX17变异的儿童患有严重的肺动脉高血压 (PAH),具有独特的血管异常和先天性心脏缺陷. 这种SOX17相关的PAH突出了该基因在肺血管发育中的作用.
科学领域:
- 遗传学 是一个遗传学.
- 儿童心脏病学 儿童心脏病学
- 肺部病理学 肺部病理学
背景情况:
- 儿童肺动脉高血压 (PAH) 可能与遗传因素有关.
- SRY-box转录因子17 (SOX17) 是一种新发现的与遗传性和先天性心脏病相关的PAH风险基因.
研究的目的:
- 描述与SOX17变异相关的儿科PAH的临床,血液动力学,成像和病理特征.
- 了解SOX17在肺血管发育中的作用.
主要方法:
- 组建了一个多机构的小儿PAH患者 SOX17 变异组合.
- 已识别的试验对象的外体和PAH基因面板测序.
- 数据从注册表和回顾性图表审查中收集.
主要成果:
- 确定了13名患有SOX17变体和PAH的儿童 (1.6-16岁).
- 患者呈现严重的PAH,肺动脉压力和阻力升高,对血管扩张剂没有反应.
- 影像检查显示了非典型的肺动脉解剖学,包括扩张和扭曲,组织学发现显示了形动脉病变和毛细血管动脉瘤.
结论:
- 与SOX17相关的PAH是一种独特的遗传综合征,具有早期发病的严重疾病.
- 它的特点是显著的肺血管异常和先天性心脏病的高患病率.
- 这些发现表明SOX17在正常的肺血管发育中起着关键作用.
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