We investigated six men and a woman suspected of suffering from congenital immotility of cilia. All had chronic airway infections, and the men had immotile spermatozoa. The woman and three men had Kartagener's syndrome. The investigations included measurements of the mucociliary transport in the lower airways and ultrastructural studies of the sperm tails or respiratory cilia (or both). Mucociliary transport was significantly delayed. Sperm tails lacked dynein arms in five patients. Respiratory cilia from the women and two men lacked dynein arms and were irregularly oriented. The results support the hypothesis that a congenital defect in the cilia and sperm tails will cause chronic respiratory-tract infections and male sterility--the immotile-cilia syndrome. In about half these patients there will also be a situs inversus--i.e., Kartagener's syndrome.

Twelve patients were investigated 7-168 months after pneumonectomy. Two of them had also undergone resection of a segment of the remaining lung. The follow-up included studies of working capacity, static and dynamic lung volumes, alveolar gas exchange, diffusing capacity, blood gases and central haemodynamics with right heart catheterization. The working capacity was markedly reduced, limited by dyspnoea in 10/12 patients. The dyspnoea was related to reduced static and dynamic lung volumes (50% of normal). The diffusing capacity of the remaining lung was half of that predicted for two lungs from total haemoglobin and age and the transfer capacity of the lungs for oxygen was loaded to its maximum even at submaximal loads, resulting in a decrease in arterial oxygen tension and saturation and an increase in the alveolo-arterial oxygen tension difference. The central circulation was hypokinetic at submaximal loads and the stroke volume was small. The reduction in working capacity was caused by a number of coacting factors, inactivity, reduced lung function and small stroke volume. It was not possible from the present investigation to single out any of these factors as the main cause of dyspnoea during exercise and thereby the reduced working capacity.

The immotile-cilia syndrome is an autosomal recessive disease of the microtubules of ciliated cells and spermatozoa, and possibly also of neutrophil leukocytes; it affects approximately 1 in 20,000 people. A variety of aberrations in the axonemal microtubular apparatus has been observed. The most common is deficiency of dynein-arms, which leads to immotility or erratic movement of spermatozoa and respiratory tract cilia. The result is male sterility, and chronic or recurrent respiratory tract infections and bronchiectasis due to absence of mucociliary clearance. In addition, 50% of the persons have situs inversus and hence Kartagener's syndrome.

Tracheobronchial clearance was studied twice in 16 patients with chronic obstructive bronchitis after inhalation of 6 microns (aerodynamic diameter) monodisperse Teflon particles labeled with 111In. At one exposure the particles were inhaled at an extremely slow flow, 0.05 L/s; at the other they were inhaled at a normal flow, 0.5 L/s. Theoretical calculations and experimental data in healthy subjects indicate particle deposition mainly in the smallest ciliated airways using 0.05 L/s, i.e., in the bronchiolar region, and an enhanced deposition in larger airways using 0.5 L/s. Lung retention was measured at 0, 24, 48 and 72 h. Clearance was significantly every 24 h for both exposures (p < .05). The fractions of retained particles were significantly larger for particles inhaled at 0.05 L/s compared to 0.5 L/s at all points of time (p < .001). Compared to healthy subjects, the retained fractions of deposited particles were larger in patients with bronchitis breathing at 0.05 L/s, but smaller with breathing at 0.5 L/s (p < .01). Significant relationships were found between lung retentions and airway resistance (Raw) at 0.5 L/s, r = -.68 (p < .01), but not at 0.05 L/s, and between lung retention at 24 h and weight of expectorated sputum at 0.05 L/s, r = -.50 (p < .05). There was, furthermore, an almost significant relationship between sputum volume and rate of tracheobronchial clearance between 0 and 24 h (in percentage of the total amount cleared during 72 h) at 0.05 L/s, r = .42 (p = .05). The results indicate that in patients with chronic bronchitis overall clearance of particles in small airways is incomplete, as compared to larger airways. An increased amount of mucus, however, seemed to improve clearance of peripherally deposited particles, possibly by making cough more effective in small airways.