Lung Function in Children with Primary Ciliary Dyskinesia

Abstract

Background: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance that results in accumulation of mucus and bacteria in the airways. Lower respiratory tract infections lead to airway remodeling and lung function impairment. The aim of our narrative review is to discuss available data on lung function in PCD children, focusing on risk factors for lung function impairment. Methods: Relevant published studies searching MEDLINE/Pubmed are included in this narrative review, using these terms: “primary ciliary dyskinesia” and “pulmonary function test” or “spirometry” or “lung function”. Filters were language (English) and age of study subjects (0–18 years). Results and Conclusions: The majority of recent published studies showed normal spirometric values in PCD children, even if some authors described a pulmonary impairment. Together with spirometry, Lung Clearance Index has been applied for detecting peripheral airway disease, and it might have a role in early mild lung disease assessment. Studies on lung function trajectories after PCD diagnosis showed a significant heterogeneity, with some patients maintaining reasonably good lung function, whereas others showing a decline. Further studies are needed to analyze lung function prospectively from childhood into adulthood, and to evaluate whether lung function trajectories are affected by PCD clinical phenotype, ultrastructural ciliary defect or genetic background.

Pulmonary functions, nasal symptoms, and quality of life in patients with primary ciliary dyskinesia (PCD)

“…In PCD, lung abnormalities such as mucus plugging, peri‐bronchial thickening and bronchiectasis lead to impaired lung functions, increased work of breathing and decreased QOL 30 . In the study mentioned earlier, mean FEV1 and forced vital capacity of the whole group were lower than normal; when stratified by age, children aged 6−9 years had the smallest impairment 5 .…”

“…FEF 25−75 was in the lower limit of normal and LCI was increased, consistent with small airway obstruction. Previous studies found that LCI is more sensitive than FEV1 to detect early lung disease, and may correlate with CT findings 30,31 . In a study comparing PCD, CF and healthy controls, FEV1 was similarly reduced in PCD and CF, while FEF 25−75 and maximal expiratory pressure were lower in PCD 7 .…”

“…Previous studies found that LCI is more sensitive than FEV1 to detect early lung disease, and may correlate with CT findings. 30,31 In a study comparing PCD, CF and healthy controls, FEV1 was similarly reduced in PCD and CF, while FEF 25−75 and maximal expiratory pressure were lower in PCD. 7 In another study, abnormal LCI was found in nearly all 27 patients, including those with normal FEV1.…”

Lung Function in Childhood: Designing the Future Trajectories

“…Lung function testing is considered a parameter for evaluating the severity of exacerbation in these patients [ 8 ]. It is important to recognize the risk factors and to monitor the follow-up in terms of exacerbation and lung function in these patients, as well as in the subgroup of children with primary ciliary dyskinesia [ 9 , 10 ]. As already evidenced in cystic fibrosis, Pseudomonas aeruginosa represents the most relevant risk factor for both exacerbation and lung function worsening [ 11 ].…”