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+0 s and 8d+1d. Of these, 9d+0s cilia prevailed in the proximal region, wherea s 8d+1d prevailed in the distal region. Translocation of a peripheral doubl et to the central position occurred at the middle region of cilia lacking t he central pair, probably to compensate for its absence. Quantitative analy sis showed that the percentages of anomalous cilia were 5.32+/-0.93 in nasa l samples and 43.17+/-2.34 in bronchial samples. Spermatozoa without the ce ntral 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 c auses of primary ciliary dyskinesia, in this case quantitative ultrastructu ral analysis and clinical data indicate that this is an acquired ciliary de fect.