Pulmonology. 2026 Dec;32(1):2704422. doi: 10.1080/25310429.2026.2704422. Epub 2026 Jul 21.
ABSTRACT
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.
PMID:42478199 | DOI:10.1080/25310429.2026.2704422