Background Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation, prognosis and ciliary ultrastructure. Our study aimed to comprehensively characterise a large cohort with respect to ciliary ultrastructure, beat frequency, sputum microbiology, mortality and lung function decline.
Method A cohort of 100 adult PCD patients was identified at a tertiary respiratory centre. A retrospective analysis of clinical age at presentation and diagnosis alongside ciliary ultrastructure, nasal nitric oxide, beat frequency, sputum microbiology, lung function at diagnosis and follow-up and mortality were recorded. Non-parametric multi-parameter analysis of variance and Spearman rank correlation statistical analysis was performed to identify significant associations with decline in lung function (FEV1%/year). Median duration of follow-up was 7.5years (range 2–30years).
Results Overall mortality was 4% (median age of death 55years). 12% of patients had a central pair/transposition defect, 37% missing outer dynein arms, 15% missing inner dynein arms, 28% no arms, and 3% had normal ultrastructure. There was no significant correlation between ciliary ultrastructure, beat frequency (range 0–13.9Hz) and nasal nitric oxide with clinical age at presentation (range 1–26 years) and diagnosis (range 1–72 years) or lung function at presentation and decline with follow-up. There was additionally no significant association between sputum isolation including Pseudomonas aeruginosa with lung function decline. 44% of patients had Pseudomonas aeruginosa chronic infection. The incidence of NTM colonisation was low (4%). Aspergillus species colonisation was additionally low (5%). The average lung function decline in the cohort was 1.45% FEV1/year.
Conclusions Comprehensive characterisation of an adult PCD cohort with ciliary ultrastructure, light microscopy, clinical presentation and follow-up data shows a relatively favourable outcome with optimum care. Ciliary ultrastructure, beat frequency and nasal nitric oxide does not predict prognosis. Contrary to parallel diagnoses such as cystic fibrosis and adult idiopathic bronchiectasis, microbiological isolation of Pseudomonas aeruginosa is not associated with a more rapid decline in lung function with optimal prophylaxis and care. Contrary to recent suggestion of low ciliary beat frequency and low nasal nitric oxide association with NTM susceptibility, we did not find a high incidence of NTM or Aspergillus species within this cohort.