病例报告:复发性肺和覆盖性大动脉暴露埃尔德海姆-切斯特病
Tiépé Rokia Ouattara1, Théo Pezel2, Gwenael Lorillon3
1Department of Internal Medicine, Lariboisière Hospital, Assistance Publique des hôpitaux de Paris (APHP), Université Paris Cité, Paris, France.
Frontiers in immunology
|September 29, 2025
概括
埃尔德海姆-切斯特病 (ECD) 诊断可能是具有挑战性的,因为它的罕见性和多样化的症状. 这一案例突出显示,经常出现的肺流是不寻常的初始征兆,基因检测证实了MAP2K1突变.
科学领域:
- 罕见疾病是一种罕见的疾病.
- 囊细胞性疾病 囊细胞性疾病
- 在瘤学瘤学.
背景情况:
- 埃尔德海姆-切斯特病 (ECD) 是一种罕见的囊细胞性疾病,具有多种临床表现,往往导致诊断挑战.
- 症状从无症状到严重的器官功能障碍,骨头疼痛是常见的,但不是普遍的.
研究的目的:
- 报告一例埃尔德海姆-切斯特病病例,最初呈现出反复复出现的多流液,没有典型的先前症状.
- 突出诊断实用性临床放射学发现,组织病理学和分子测试在具有挑战性的ECD病例.
主要方法:
- 临床放射学评估,包括对主动脉和脏的成像.
- 胸腔活检与组织病理学和免疫组织化学 (CD163,pERK,XIIIa因子).
- 对BRAF和MAP2K1突变进行无细胞DNA分析.
主要成果:
- 患者出现了反复出现的多叶膜溢出和多叶膜加厚,以及被覆盖的主动脉和周围内透物.
- 组织病理学证实了囊细胞透和纤维化;免疫组织化学显示出阳性CD163,pERK和XIIIa因子.
- 周围血液cfDNA揭示了MAP2K1突变,证实了ECD.
结论:
- 复发性多流可能是埃尔德海姆-切斯特病的一个非典型的初始表现.
- 结合成像,活检和分子分析 (cfDNA) 的综合诊断方法对于及时诊断心电病至关重要.
- 通过cfDNA检测MAP2K1突变,提供了一种非侵入性方法来识别ECD中的关键驱动突变.
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