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Updated: Aug 6, 2026
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Primary Ciliary Dyskinesia: Insights from a Portuguese tertiary centre cohort
Sofia Teixeira-Oliveira1, Inês Pais-Cunha1,2,3, Susana S Lopes4
1Departamento de Ginecologia-Obstetrícia e Pediatria,Faculdade de Medicina da, Universidade do Porto, Porto, Portugal.
Insights
Primary Ciliary Dyskinesia (PCD) diagnosis time decreased with evolving methods, showing age-related differences in disease presentation and treatment. Early detection is crucial for better outcomes in this rare genetic disorder.
Area of Science:
- Genetics
- Pulmonology
- Rare Diseases
Background:
- Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting ciliary function, leading to chronic respiratory issues.
- Diagnostic approaches for PCD have evolved, yet a single definitive test remains elusive.
Purpose of the Study:
- To analyze diagnostic pathways and clinical characteristics of PCD patients in Portugal.
- To investigate age-related differences in PCD presentation, diagnosis, and management.
Main Methods:
- Retrospective study of 35 confirmed PCD patients (13 children, 22 adults) at a Portuguese tertiary hospital (2001-2024).
- Evaluation of diagnostic methods' evolution, including high-speed video microscopy, transmission electron microscopy, and genetic testing.
- Analysis of clinical data, including mutation types (DNAH5, DNAH11), pulmonary function, bronchiectasis, and treatment modalities.
Main Results:
- Median age at diagnosis was 7 years for children and 38.5 years for adults, with a decreasing time to diagnosis over the years.
- Common mutations identified were DNAH5 (31.3%) and DNAH11 (12.5%).
- Adults showed more extensive bronchiectasis and received bronchodilators and inhaled antibiotics, while children had better pulmonary function and received hypertonic saline.
Conclusions:
- This study presents the largest Portuguese PCD cohort, highlighting significant age-related differences in clinical presentation and management.
- Findings underscore the importance of early PCD detection and intervention to mitigate lung damage and improve patient outcomes.
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.
