CILIARY DEFECTS IN HEALTHY-SUBJECTS, BRONCHIECTASIS, AND PRIMARY CILIARY DYSKINESIA

To develop criteria to aid in the diagnosis of primary ciliary dyskine sia (PCD) we analyzed quantitatively the incidence, and the range of c iliary ultrastructural abnormalities in healthy subjects and in patien ts with respiratory tract disease. The beat frequency and ultrastructu re of nasal respiratory tract cilia, including ciliary orientation, we re measured in 62 healthy subjects (31 nonsmokers, 20 exsmokers, and 1 1 smokers), ranging in age from 1 to 76 yr, and in 51 patients with re spiratory tract disease. In healthy subjects, ciliary beat frequency ( CBF) ranged between 9.6 and 15.3 Hz, the incidence of microtubule defe cts varied between 0 to 9%, the mean number of inner dynein arms per c ilium ranged from 3.0 to 7.1, and the mean number of outer dynein arms per cilium ranged from 7.4 to 9.0. The deviation of cilia in healthy subjects varied between 8 and 29 degrees. By comparing the data for ci liary defects in healthy subjects with the data obtained from patients with respiratory disease, we identified two patient groups: patients with PCD (n = 31) and patients with respiratory tract disease not due to PCD. For comparison with the PCD patients, a group of 20 patients w ith bronchiectasis was selected and analyzed. Patients with PCD had si gnificantly lower CBF (p < 0.001), significantly higher incidences of peripheral and central tubule defects (p < 0.01), and greater ciliary disorientation (p < 0.005). There was a strong correlation between CBF and the number of outer dynein arm numbers, but not with inner dynein arm numbers, suggesting that inner and outer dynein arms may play dif ferent functional roles in producing ciliary motility. No significant differences were found in the ultrastructural features of bronchiectas is patients when compared with healthy subjects. The findings demonstr ate the importance of using both quantitative functional and ultrastru ctural studies in the diagnosis of PCD and suggest that measurements o f CBF, numbers of outer and inner dynein arms, and ciliary orientation may be better parameters for identifying PCD patients than measuremen ts of the incidence of microtubule defects and compound cilia. The dat a obtained from healthy subjects, particularly the ranges of ciliary d efects, have been used to determine the significance of ciliary defect s in patients with respiratory tract disease.