Cardiopulmonary assessment in primary ciliary dyskinesia

Background: Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive disorder of ciliary dysfunction associated with lung involvement, which has a great impact on health. There is limited information concerning the aerobic fitness of children and adolescents with PCD. The aim of this study was to assess cardiopulmonary functional capacity and its relationship with pulmonary function and physical activity (PA) levels in patients with PCD.

Design: Ten patients with PCD (age 13·2 ± 2·8 years) underwent spirometry and cardiopulmonary exercise testing. PA was investigated through a questionnaire. Eight age- and body mass index-matched healthy children were enrolled as controls. Main variables were forced expiratory volume at 1 s, peak oxygen uptake (VO(2peak) ) and time spent in PA.

Results: Forty per cent of patients with PCD had impaired lung function as expressed by FEV(1) < 85% predicted. Only patients with impaired lung function exhibited reduced VO(2peak) (18·1 ± 7·9 mL/kg/min). Time spent in total daily PA was slightly lower in patients than controls, with no difference between patients with normal or reduced lung function. In multiple regression models, male gender (β = 0·518, P = 0·018), age (β = 0·752, P = 0·035) and time spent in vigorous PA (β = 0·353, P = 0·049) were independent predictors of aerobic fitness.

Conclusions: Assessment of resting pulmonary function and cardiopulmonary functional capacity could contribute to the evaluation of pulmonary impairment in PCD. Given the benefit of physical exercise on airway clearance and on general health and quality of life, patients with PCD should be encouraged to adopt an active lifestyle.