基因组学变化在具有"健康"内镜的单源性疾病患者中很常见:GIPAD-GIPPI多中心研究结果
Jacopo Ferro1, Paola Francalanci2, Valentina Angerilli3
1Pathology Unit, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini, 5, 16147, Genova, Italy.
Human pathology
|March 25, 2025
概括
组织学损伤可以在患有非常早期发病的炎症性肠病 (VEO-IBD) 的儿童的肠道内膜中发现,即使内镜显示没有可见的病变. 这凸显了彻底组织采样对于VEO-IBD的准确诊断的重要性.
科学领域:
- 儿科胃肠病学 儿科胃肠病学
- 胃肠道病理 胃肠道病理
- 免疫学 免疫学 免疫学
背景情况:
- 非常早期发病的炎症性肠病 (VEO-IBD) 在6岁之前出现,需要多学科的方法.
- 内镜和组织学是至关重要的,但在VEO-IBD.中可能没有确的结果.
- 单一性疾病 (MDs) 是VEO-IBD的重要组成部分,通常与原发性免疫缺陷有关.
研究的目的:
- 调查VEO-IBD.中组织病变的存在和特征.
- 为了比较内镜上受损的粘膜与看似健康的粘膜的组织学发现.
- 评估组织学在VEO-IBD的诊断价值,特别是与内镜发现有关的.
主要方法:
- 来自多中心VEO-IBD队列 (93名患者) 的内镜数据的回顾性分析.
- 同学重新评估76名患者的组织学幻灯片,具有完整的内镜和组织学数据.
- 基于粘膜的内镜外观的组织学发现的比较.
主要成果:
- 在内镜受损的粘膜中观察到组织学损伤.
- 值得注意的是,43.3%的内镜上健康的粘膜病例也显示出组织学损伤.
- 这种内镜和组织学发现之间的差异在单一性疾病 (100%) 与"真实"IBD (29.1%) 相比更为明显.
结论:
- 在VEO-IBD患者的内镜上看起来正常的肠道粘膜中,可以发生组织病变.
- 这种病变的存在在单一性疾病中明显更常见.
- 建议对所有VEO-IBD患者进行准确和全面的粘膜采样,无论内镜检测结果如何.
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