Lung function and bronchial reactivity in six patients with immotile cilia syndrome

Previous studies of immotile cilia syndrome have shown airway obstruction. The aim of this study was to analyse lung function in such patients before severe chronic obstruction had occurred. Spirometry, lung volumes, pulmonary resistance and static pressure volume diagram were studied in six patients (ages 21-43 years). Closing capacity, the volume of trapped gas and the slope of the alveolar plateau were determined with N2 wash-out tests. Regional ventilation was studied with a gamma camera after inhalation of 99Tcm-tagged dry aerosol. Arterial blood gases were determined at rest and during exercise. Bronchial reactivity was studied with FEV1 before and after inhalation of methacholine aerosol. Five of six patients showed a rather uniform pattern, dominated by signs of "small airway disease" seen in e.g. volumes of trapped gas and closing capacity. Those five patients had uneven ventilation scintiscans and bronchial hyperreactivity. Spirometric findings and lung mechanics were influenced by lung resection, scoliosis and by the lability of bronchial tone. Five patients had normal arterial blood gases at maximum work load. Working capacity was essentially normal in all but one patient, who had a high degree of obstruction. Immotile cilia syndrome is thus compatible with a comparatively well preserved lung function and a normal working capacity far into adult life.