Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia

Abstract

Background In primary ciliary dyskinesia (PCD) lung damage is usually evaluated by high-resolution CT (HRCT).Objective To evaluate whether HRCT abnormalities and Pseudomonas aeruginosa infection were better predicted by spirometry or plethysmography. Methods A cross-sectional study performed in consecutive patients with PCD who underwent sputum culture, spirometry, plethysmography and HRCT within 48 h. Principal component analysis and soft computing were used for data evaluation. Results Fifty patients (26 children) were studied. P aeruginosa infection was found in 40% of the patients and bronchiectasis in 88%. There was a correlation between infection with P aeruginosa and extent of bronchiectasis (p¼0.009; r ¼0.367) and air-trapping (p¼0.03; r ¼0.315). Moreover, there was an association between infection with P aeruginosa and residual volume (RV) values >150% (p¼0.04) and RV/total lung capacity (TLC) ratio >140% (p¼0.001), but not between infection with P aeruginosa and forced expiratory volume in 1 s (FEV 1 )<80%, or forced expiratory flow between 25% and 75% of forced vital capacity (FVC) (FEF 25e75% )<70% or FEV 1 /FVC<70% (<80% in children). Severity of the total lung impairment on chest HRCT directly correlated with RV when expressed as per cent predicted (p¼0.003; r ¼0.423), and RV/TLC (p<0.001; r ¼0.513) or when expressed as z scores (p¼0.002, r ¼0.451 and p<0.001, r ¼0.536 respectively). Principal component analysis on plethysmographic but not on spirometry data allowed recognition of different severities of focal air trapping, atelectasis and extent of bronchiectasis. Conclusions Plethysmography better predicts HRCT abnormalities than spirometry. Whether it might be a useful test to define populations of patients with PCD who should or should not have HRCT scans requires further longitudinal studies.

Aerobic Fitness in Children and Young Adults with Primary Ciliary Dyskinesia

“…The present data concerning plethysmographic parameters were quite similar to those reported by Pifferi et al [45], showing significantly increased airway resistance, FRC, RV and RV/TLC. Interestingly, it has been claimed that these measures show better prediction of abnormalities on imaging by chest high-resolution computed tomography than spirometry [45].…”

“…We found a significantly reduced W max /kg in PCD patients compared to in healthy controls. Abnormal spirometric parameters have consistently been reported in PCD patients [10], [43], [44], [45]. The present data concerning plethysmographic parameters were quite similar to those reported by Pifferi et al [45], showing significantly increased airway resistance, FRC, RV and RV/TLC.…”

Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia

“…We found a lower proportion of chronically PA-infected patients in our cohort than in other studies 12 24 25. The relatively short time between first identification of PA and chronic infection in sputum, especially in older patients, may be influenced by late detection of the first Pseudomonas isolate.…”

DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease

“…Mutations in this gene can cause primary ciliary dyskinesia (PCD) type 3, as well as Kartagener syndrome, another disease due to ciliary defects [31–33]. PCD is characterized by marked peripheral airway dysfunction [34] and small airways obstruction leading to air trapping and a consequent increase in residual volume (RV) and RV/TLC ratio [35,36]. Similarly, the major sites of obstruction in COPD are small airways [37–39].…”