Aerobic Fitness in Children and Young Adults with Primary Ciliary Dyskinesia

Abstract

BackgroundAlthough aerobic fitness is regarded as an overall prognostic measure of morbidity and mortality, its evaluation in the chronic progressive sinopulmonary disease primary ciliary dyskinesia (PCD) has been infrequently and inconsistently reported. Here we assessed peak oxygen uptake (VO2peak) in a large well-characterized cohort of PCD patients, and explored whether VO2peak was associated with parameters of pulmonary function, self-reported physical limitations, and physical activity level.MethodsVO2peak, spirometry, diffusing capacity, whole-body plethysmography, and nitrogen multiple breath inert gas washout (N2 MBW) were assessed in a cross-sectional, single-occasion study of clinically stable children and young adults with PCD. We used a questionnaire including self-reported physical limitations in everyday life or in vigorous activities, and estimation of weekly hours of strenuous physical activity. VO2peak in PCD patients was compared with that in matched, healthy control subjects and a national reference.ResultsForty-four PCD patients aged 6–29 years exhibited reduced VO2peak compared to healthy controls (P<0.001) and the national reference. VO2peak was abnormal (z-score <–1.96) in 34% of PCD patients. Spirometric values, RV/TLC, and indices of N2 MBW were significantly abnormal, but VO2peak only correlated with FEV1 and DLCO/VA. VO2peak correlated with complaints of moderate or significant limitations in vigorous activities (P = 0.0001), exhibited by 39% of PCD patients.ConclusionOne-third of PCD patients exhibited substantially lower aerobic fitness than healthy subjects. Aerobic fitness correlated with FEV1, DLCO/VA and self-reported complaints of limitations in vigorous physical activity. These findings are most likely explained by PCD pulmonary disease and its impact on pulmonary function and physical ability. Considering fitness as an important outcome and including regular strenuous physical activity in PCD treatment would probably altogether increase pulmonary clearance, lung function, aerobic fitness, and quality of life, and prevent lifestyle-related diseases.

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

“…118 Thus, airway clearance is expected to be quite beneficial in PCD and should be a cornerstone of long-term therapy. Daily cardiovascular exercise should also be strongly encouraged, as poor exercise capacity is linked to decreased pulmonary function in PCD, 119 and exercise may improve mucus clearance. 120 Antibiotics should be given for acute respiratory exacerbations in PCD.…”

Abbreviation modalities of nitrogen multiple‐breath washout tests in school children with obstructed lung disease

“…Measures of global ventilation distribution inhomogeneity using the multiple‐breath inert gas washout (MBW) method provide important information that complements standard pulmonary function tests, such as spirometry, and are highly sensitive for detecting both early and established lung damage in cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) . MBW requires minimal active patient cooperation and is feasible in all age groups; therefore, it may be appropriate as a future clinical tool for monitoring disease severity in these patients …”

Validation of pediatric health‐related quality of life instruments for primary ciliary dyskinesia (QOL‐PCD)

“…The QOL-PCD scales correlated with a generic HRQoL measure PedsQL on scales assessing similar constructs. Convergent validity was also confirmed between scales of the QOL-PCD and generic versions measuring the same construct (CAT, SN-5, and SNOT-20 [35][36][37][38]40,41 Cystic Fibrosis Questionnaire, 40 Leicester Cough Questionnaire, 35 Sino-Nasal Outcome Test-22, 40 and Medical Outcomes Study Short Form-36. 38,39,41 These studies indicated that generic measures lack sensitivity to the specific concerns of patients with PCD; this could limit our assessment of convergent and divergent validity.…”

“…Comparison of QOL‐PCD with generic measures has limitations. This has been highlighted in a number of studies that have assessed HRQoL in patients with PCD by using generic measures, such as the St George Respiratory Questionnaire, Cystic Fibrosis Questionnaire, Leicester Cough Questionnaire, Sino‐Nasal Outcome Test‐22, and Medical Outcomes Study Short Form‐36 . These studies indicated that generic measures lack sensitivity to the specific concerns of patients with PCD; this could limit our assessment of convergent and divergent validity …”