摘要目的:分析全外显子组测序（WES）技术在肺部疑难病中的诊断价值。方法:回顾性分析2021年5月至2024年8月于北京协和医院为明确诊断而行WES的肺部疑难病患者，采集其人口学信息、临床资料、WES检测结果，并进行总结分析。结果:共纳入患者24例，其中男性14例（58.33%），女性10例（41.67%），中位年龄28岁（14~64岁）；使用WES后共发现致病性或可能致病性基因变异结果9个，涉及6个基因，依靠WES明确诊断患者共7例，确诊率为29.17%。7例患者中病种占比最高的是原发免疫缺陷病，此外对于肺受累的罕见病，如血管型爱唐综合征（vEDS），WES也有一定的诊断价值。结论:WES技术能够有效提升肺部疑难病患者的诊断率，尤其在起病年龄小、反复感染或多部位感染的患者中，推荐行WES。

abstractsObjective:To evaluate the diagnostic value of whole exome sequencing (WES) for difficult and complicated pulmonary diseases.Methods:A retrospective analysis was conducted on patients with difficult and complicated pulmonary diseases who underwent WES at Peaking Union Medical College Hospital from May 2021 to August 2024. Demographic information, clinical data, and WES results were collected and systematically analyzed.Results:A total of 24 patients were included, comprising 14 males (58.33%) and 10 females (41.67%). The median age of the patients was 28 years (range: 14-64 years). WES identified nine pathogenic or likely pathogenic genetic variants associated with six genes, leading to a definitive diagnosis in seven patients (diagnostic rate: 29.17%). Among the diagnosed cases, primary immunodeficiency diseases accounted for the largest proportion. WES also showed certain diagnostic value for certain rare diseases with pulmonary involvement, such as vascular Ehlers-Danlos syndrome (vEDS).Conclusion:WES is recommended because it can effectively improve the diagnostic rate for patients with difficult and complicated pulmonary diseases, particularly early-onset cases and those involving multisystem or recurrent infections.