患有努南综合征的患者肺高血压
Julien Grynblat1,2,3, Mathieu Farges4,3, Pascal Magro4
1Université Paris-Saclay, Inserm UMR_S 999 (HPPIT), Department of Respiratory and Intensive Care Medicine (FHU André Cournand, ERN-LUNG), Hôpital Bicêtre (AP-HP), Le Kremlin Bicêtre, France.
The European respiratory journal
|December 11, 2025
概括
肺高血压 (PH) 可能发生在努南综合征 (NS) 中,这是一种影响RAS/MAPK通路的遗传疾病. 这项研究对NS患者的PH进行了表征,发现了前毛细管和后毛细管形式,通常与心脏缺陷有关.
科学领域:
- 遗传学和分子生物学
- 心脏病学 心脏病学
- 肺部病理学 肺部病理学
背景情况:
- 努南综合征 (NS) 是一种由RAS/MAPK通路激活引起的自体主导RAS病变.
- 肺高血压 (PH) 是已知的NS并发症,但其特征和机制尚不清楚.
研究的目的:
- 描述肺高血压NS患者的临床表型,遗传基础和结果.
- 系统地审查文献,寻找Noonan综合征中PH的额外病例.
主要方法:
- 来自法国PH网络的数据分析.
- 对已发表的案件进行系统的文献审查.
- 七名患有PH的NS患者的临床和遗传特征.
- 检查肺部扩张的组织病理学发现.
主要成果:
- 确定了7名患有PH的NS患者 (平均年龄为9岁),在PTPN11和SOS1.1中存在致病变体.
- 患者呈现出严重的毛囊前PH,相关的先天性心脏缺陷和明显的CT发现.
- 三名患者死亡,1名患者接受肺移植;扩张的肺部显示有形病变和淋巴管切除.
结论:
- 前毛细血管和后毛细血管PH都可能使努南综合征复杂化.
- 在NS中的PH可能与先天性心脏缺陷和其他多系统表现有关.
- 需要进一步的研究,以充分理解Noonan综合征的背景下PH.
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