Clinical consideration in the diagnosis of primary ciliary dyskinesia.

Background: Primary ciliary dyskinesia (PCD) is usually diagnosed by ultras tructural investigations of nasal or bronchial mucosa. Less invasive techni ques for quick and cost-effective diagnosis of PCD should be evaluated. Met hods: In 32 patients with suspected PCD, saccharin transport time, ciliary beating of nasal respiratory epithelium, and ultrastructure of nasal mucosa biopsies were investigated. Results: In 13 patients, PCD was excluded by a normal saccharin transport time (< 20 min). In 19 patients, respiratory ce lls were obtained by nasal brushing. Frequency, coordination, and amplitude of ciliary beating were examined using interference contrast microscopy an d scored. PCD was excluded in 10 of 19 patients, who revealed normal ciliar y activity. In the remaining 9 patients, nasal mucosa specimens for ultrast ructural investigation were obtained. Ultrastructural alterations indicatin g PCD were found 4 of 9 specimens, in 2 specimens no cilia were found and i n 3 specimens alterations indicating secondary inflammatory alterations wer e found. Conclusion: PCD may be efficiently excluded in several cases using cost-effective diagnostic techniques. The definite diagnosis in the remain ing cases requires ultrastructural investigations which should be performed in specialized centers. In the present study, PCD in a carefully preselect ed group had a surprisingly high prevalence.