[Diagnostic value of whole exome sequencing in difficult and complicated pulmonary diseases]

Objective: 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.