从英国国家转诊中心在一年内诊断出全身性自身炎症性疾病
Hugh Caterson1,2, Charalampia Papadopoulou1,3, Claire Peet1,4
1National Amyloidosis Centre, Royal Free Hospital, London, United Kingdom.
Rheumatology (Oxford, England)
|March 25, 2025
概括
系统性自身炎症性疾病 (SAIDs) 的诊断往往会延迟,但专家诊所和遗传检测可以改善检测. 这项研究分析了成年SAID患者,揭示了常见的诊断,如家族地中海热病和显著的诊断延迟.
科学领域:
- 风湿病学和免疫学
- 临床遗传学 临床遗传学
- 罕见疾病 罕见疾病
背景情况:
- 系统性自身炎症性疾病 (SAID) 往往由于复杂的表现而被诊断为晚期.
- 专业中心和先进的基因测试对于提高SAID诊断率至关重要.
- 了解成人SAID转诊的人口统计和病例组合对于优化护理至关重要.
研究的目的:
- 为了调查成年患者的人口特征和诊断病例组合,他们被转移到英国国家SAID中心.
- 评估基因测试对成年人群SAID诊断的影响.
- 为了量化各种SAID患者群体的诊断延迟.
主要方法:
- 对所有在2022年进入中心的新患者的医疗记录的回顾性审查.
- 利用下一代测序 (NGS) 面板 (24个基因) 和桑格测序进行遗传分析.
- 分析了患者的人口统计,诊断,遗传结果和诊断时间表.
主要成果:
- 在306名转诊患者中,121名 (39.5%) 被诊断为SAID.
- 常见的诊断包括家族地中海热 (31%),异常性复发性心膜炎 (14%),和未分化的SAID (11%).
- 观察到显著的诊断延迟,新诊断的平均时间为4.5年,晚发性SAID的平均时间为6年.
结论:
- 英国国家中心管理着大量的SAID诊断成年人的数量和种类.
- 诊断SAID仍然是一个临床挑战,持续的延迟影响了患者管理.
- 基因检测在确认单一性SAID方面发挥着至关重要的作用,支持更早,更准确的诊断.
关键词:
自燃性炎症性疾病是一种自燃性炎症性疾病.克里奥皮林相关的周期性综合征 (CAPS)E1酶E1酶是一种酶.家庭地中海热病 (FMF)定期发烧周期性发烧施尼茨勒综合症 (TRAPS) 是一种斯蒂尔的疾病.瘤坏死因子受体相关的周期性综合征吸尘器是真空的冠状腺炎 (PFAPA) 是一种疾病.腹腔性口腔炎是一种口腔炎.这是自发炎症.诊断 诊断 诊断 诊断 诊断 诊断异常性复发性心膜炎 (IRP) 是一种疾病.喉炎是一种喉炎.人体综合症 (VEXAS)治疗治疗治疗治疗治疗治疗在X-linked中使用.更多相关视频
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