The Relationship Between Structural and Functional Pulmonary Status and Quality of Life in Children With Primary Ciliary Dyskinesia.

INTRODUCTION

Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired mucociliary clearance, leading to recurrent airway infections and bronchiectasis. Monitoring disease progression requires both functional and structural assessments of the lungs. This study aims to investigate the relationship between lung function, structural abnormalities, and quality of life in patients with PCD.

MATERIALS AND

METHODS

The study included 30 genetically confirmed PCD patients under routine follow-up and had no active infection at the time of evaluation. Demographic and clinical data were recorded. Pulmonary function tests (PFT), including spirometry, plethysmography, and diffusion capacity for carbon monoxide, performed within the past year, were analyzed. Chest computed tomography (CT) scans were evaluated using the modified Bhalla scoring system. The St. George's Respiratory Questionnaire (SGRQ) was administered during the most recent follow-up.

RESULTS

The median age of the 30 PCD patients (male-to-female ratio: 17:13) was 11.6 years. The median FEV1 z-score was -1.6, with mild, moderate, and severe obstruction observed in 48%, 24%, and 20% of the patients, respectively. FEV1, FVC, and FEF25-75 values decreased with age, while TLC was increased. High-resolution computed tomography (HRCT) revealed mild lung damage in 80% and moderate damage in 20% of the cohort. SGRQ scores showed a positive correlation with exacerbations and a negative correlation with spirometric parameters.

CONCLUSIONS

Pulmonary functional impairment and reduced health-related quality of life in children with PCD are closely related to the perceived burden of disease. Although structural abnormalities on HRCT do not directly affect quality-of-life scores, they correlate with functional impairment.