Context: Ciliary dyskinesia is a rare, but significant, cause of chronic respiratory infections, and transmission electron microscopy is a critical adjunct to making the diagnosis.
Objective: To investigate a single institution's experience with patients demonstrating abnormal ciliary ultrastructure.
Design: Retrospective clinicopathologic review of 278 bronchial or nasal turbinate brushings or biopsies from 1983 through 2007.
Results: There were 12 women and 9 men (mean age, 19.6 years; range, 1-54 years) with abnormal ciliary ultrastructure. Clinical history was unavailable in 3 patients, 15 (83%) of 18 patients presented with chronic or recurrent upper respiratory infections, and 3 (17%) presented with infertility. Seven (39%) of 18 patients had findings of Kartagener syndrome with situs inversus, dextrocardia, and bronchiectasis. Truncation or absence of inner or outer dynein arms occurred in 15 (71%) of 21 cases, and 5 (24%) revealed transposition defects with displacement of the central microtubules and peripheral doublets in 9 + 0 and 8 + 1 patterns. Radial spoke defects with microtubular disarray occurred in 4 (19%) of 21 cases. Compound cilia with multiple axonemes within a single outer sheath and supernumerary microtubules each occurred in 2 (10%) of the cases. Random ciliary orientation was also found in 2 (10%) of the cases, and dense granular basal body inclusions occurred in 1 case (5%). Multiple abnormalities occurred in 6 (29%) of the 21 cases.
Conclusions: Most patients presented with chronic respiratory tract infections or infertility. Dynein arm defects, transposition defects, and radial spoke defects were the most commonly encountered abnormal findings. Less-frequent abnormal findings included compound cilia, supernumerary microtubules, and dense granular basal body inclusions.