Abstract
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder that results from the dysfunction of motile cilia, which can cause chronic upper and lower respiratory infections leading to bronchiectasis. However, there is a need for additional tools to monitor the progression of bronchiectasis in PCD. The forced oscillation technique (FOT) is an effort-independent lung function test that can be used to evaluate respiratory mechanics. In this retrospective study, we aimed to describe the radiographic findings associated with respiratory impedance (resistance (Rrs) and reactance (Xrs)) measured by FOT in six adult PCD patients and one pediatric with the (RSPH4A (c.921+3_921+6delAAGT (intronic)) founder mutation. We compared the radiographic findings on a high-resolution chest computed tomography (CT) scan with the FOT results. Our findings suggest that respiratory impedance measured by FOT may be a valuable tool for detecting and monitoring the progression of bronchiectasis in PCD patients with the (RSPH4A (c.921+3_921+6delAAGT (intronic)) founder mutation. However, further research is necessary to validate these results and determine the sensitivity and specificity of bronchiectasis monitoring in PCD patients with other genetic mutations.