Primary ciliary dyskinesia: Clinical and tomographic characterization using a combined diagnostic approach

Introduction. Primary ciliary dyskinesia (PCD) is a clinically heterogeneous condition that is difficult to diagnose. This study aimed to describe the clinical and imaging characteristics and the results of diagnostic tests in patients with suspected PCD, by implementing an unvalidated diagnostic strategy that combines screening questionnaires, nasal nitric oxide (nNO), high-speed videomicroscopy (HSVM), and genetic analysis. Population and methods. A cross-sectional observational study that included all patients referred for clinically suspected PCD between 2022 and 2025. Diagnostic tests: nNOn, HSVM, and genetic testing. Two clinical questionnaires were used to screen for PCD. Results. A total of 110 patients referred for suspected PCD were evaluated and classified into three groups: highly likely PCD (52 cases), highly unlikely PCD (54 cases), and indeterminate (4 cases). The diagnosis of PCD was made at a median age of 8.8 years. Most patients showed pulmonary involvement on their CT scans. Using the proposed diagnostic algorithm, PCD was highly unlikely in 49% of the referred cases. Conclusion. The age at diagnosis for patients with a high suspicion of PCD in our country was later than in other countries. At the time of diagnosis, the patients presented with lung damage confirmed by chest CT scans.Diagnosing PCD is a challenge in resource-limited countries. The initial approach combines screening questionnaires, nNO, and HSVM, and avoids genetic testing when a diagnosis of PCD is highly unlikely.