Primary Ciliary Dyskinesia: Insights from a Portuguese tertiary centre cohort.

INTRODUCTION

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder caused by defective ciliary structure and function, leading to chronic respiratory and systemic manifestations. Diagnostic pathways have evolved over time, but no single standalone test exists.

METHODS

Retrospective study of PCD patients followed at a Portuguese tertiary hospital, between 2001-2024.

RESULTS

Thirty-five patients with a confirmed diagnosis were included: 13 children and 22 adults. Median age at diagnosis was 7 years (0-16) in children and 38.5 years (12-64) in adults. Time to diagnosis decreased over the years, coinciding with a shift in the hierarchy of methods from high-speed video microscopy and transmission electron microscopy to genetic testing. The most frequent mutations were DNAH5 (31.3%) and DNAH11 (12.5%). Pulmonary function tended to be better in children (p = 0.085), whereas bronchiectasis were more extensive and bilateral in adults (p = 0.044 and p = 0.002, respectively). Children more frequently received treatment with hypertonic saline (p = 0.003) and adults with bronchodilators (p = 0.035). Pseudomonas aeruginosa was only identified in adults; inhaled antibiotics were only prescribed in this age group (18.2%).

CONCLUSION

This represents the largest Portuguese cohort to date and provides relevant clinical and diagnostic insight into age-related differences, supporting the importance of early detection and intervention to limit lung damage.