Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia.

Abstract

To develop criteria to aid in the diagnosis of primary ciliary dyskinesia (PCD) we analyzed quantitatively the incidence and the range of ciliary ultrastructural abnormalities in healthy subjects and in patients with respiratory tract disease. The beat frequency and ultrastructure of nasal respiratory tract cilia, including ciliary orientation, were measured in 62 healthy subjects (31 nonsmokers, 20 exsmokers, and 11 smokers), ranging in age from 1 to 76 yr, and in 51 patients with respiratory tract disease. In healthy subjects, ciliary beat frequency (CBF) ranged between 9.6 and 15.3 Hz, the incidence of microtubule defects varied between 0 to 9%, the mean number of inner dynein arms per cilium 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 ciliary 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 with bronchiectasis was selected and analyzed. Patients with PCD had significantly 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 different functional roles in producing ciliary motility.(ABSTRACT TRUNCATED AT 250 WORDS)

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

“…Ciliary ultrastructure results were expressed as a percentage of abnormal cilia among the total number of cilia analysed. As previously reported, up to 10% of cilia in control specimens can exhibit ultrastructural defects [10,11]. For this study, ciliary abnormalities were defined as the presence of .20% of ciliary defects.…”

“…Since 2002, for questionable IDA in micrographs obtained by TEM, computerised analysis of cilia was systematically performed to improve IDA visualisation, as previously reported [12]. Ciliary orientation was systematically evaluated by comparing the position of the central pairs of adjoining cilia as previously described [11,13]. Disorientation was defined as an angle .25u.…”

A prospective study of respiratory ciliary structure and function after stem cell transplantation

“…This difference was only apparent when compared with a matched control group, as the normal range of CBF showed a wide age-related spread. 11,24,25 The greater pre-HSCT respiratory compromise may partly be owing to the inclusion of more acute leukemia and lymphoma cases, with more intensive chemotherapy exposure. 26 Our results also showed reduced CBF after HSCT, regardless of GVHD occurrence and its treatment, but failed to show significant correlation with respiratory compromise.…”

Respiratory ciliary function in bone marrow recipients

“…These include complete absence or deficiency of outer or inner dynein arms, nexin links, radial spokes, central sheath, inner microtubules, and even the entire axoneme. [20][21][22] The significance of isolated ciliary ultrastructural abnormalities without functional deficit is, however, debatable. 23 Our study showed, for the first time, that allogeneic BMT was associated with ciliary dysfunction, especially for patients suffering from GVHD and BO.…”

“…The difference was also apparent when compared with a matched control group, since the normal range of CBF extended over a wide range, and a significant overlap occurs between normal and abnormal values. 21,24 On the other hand, CBF abnormalities in BO patients after lung transplantation have been extensively studied. Transient reversible ciliary dysfunction occurs in all patients who have had lung transplantation.…”