Clinical Features of Patients with Primary Ciliary Dyskinesia: Marmara University's Perspective

<bold>Aim:</bold> Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterized by recurrent respiratory tract infections, organ laterality defects, and bronchiectasis caused by ciliary dysfunction. In this study, the demographic and clinical characteristics of patients diagnosed with PCD who were followed-up at our pediatric pulmonology clinic were retrospectively examined. <bold>Methods:</bold> This study included patients with PCD who presented to our clinic between 1999 and 2023. The patients' demographic and clinical characteristics, diagnostic tests for PCD, genetic features, respiratory function test results, and sputum culture results were analysed. Statistical analyses were performed using SPSS 21.0 software. <bold>Results:</bold> One hundred twenty-seven patients were included. Of these, 66 (52%) were male, with a median age of 16 years (25-75p, 11-21). The the median age at diagnosis was 7 years (25-75p, 3-11). All patients had productive cough, and 54 (42%) had frequent complaints of otitis. Bronchiectasis was present in 86 patients (68%). The median PICADAR score was 7 (25-75p, 4-10), and the median nasal nitric oxide level was 42 ppb (25-75p, 18-347). The most common mutation detected in the genetic results of the patients was the CCDC40 homozygous mutation (12 patients). The mean FEV1 (%) was 77.3±20.9, and the mean FVC (%) was 81.5±18.9 when respiratory function tests were evaluated. <bold>Conclusion:</bold> In the presence of a chronic productive cough, the diagnosis of PCD should be considered, and diagnostic tests related to this should be considered. Although genetic tests are frequently used, the limitations of genetic panels cause diagnostic difficulties. Using more than one method increases diagnostic accuracy.