Different frequency of cilia with transposition in human nasal and bronchial mucosa. A case of acquired ciliary dyskinesia

Nasal and bronchial cilia and spermatozoa of a patient with a high clinical suspicion of a ciliary dyskinesia syndrome were ultrastructurally studied and quantified. Defective cilia showed two types of axonemal patterns: 9d+0s and 8d+1d. Of these, 9d+0s cilia prevailed in the proximal region, whereas 8d+1d prevailed in the distal region. Translocation of a peripheral doublet to the central position occurred at the middle region of cilia lacking the central pair, probably to compensate for its absence. Quantitative analysis showed that the percentages of anomalous cilia were 5.32+/-0.93 in nasal samples and 43.17+/-2.34 in bronchial samples. Spermatozoa without the central pair or with a translocated microtubular doublet were rarely observed, but a variety of nonspecific defects were seen. Even though transposition is generally considered to be an inherited ciliary defect and one of the causes of primary ciliary dyskinesia, in this case quantitative ultrastructural analysis and clinical data indicate that this is an acquired ciliary defect.