Diagnostic procedure in primary ciliary dyskinesia

Abstract

Primary ciliary dyskinesia (PCD) is usually diagnosed by ultrastructural investigations of nasal or bronchial mucosa. Less invasive techniques for quick and cost-effective diagnosis of PCD should be evaluated. In 32 patients with suspected PCD, saccharin transport time, ciliary beating of nasal respiratory epithelium, and ultrastructure of nasal mucosa biopsies were investigated. In 13 patients, PCD was excluded by a normal saccharin transport time (< 20 min). In 19 patients, respiratory cells were obtained by nasal brushing. Frequency, coordination, and amplitude of ciliary beating were examined using interference contrast microscopy and scored. PCD was excluded in 10 of 19 patients, who revealed normal ciliary activity. In the remaining 9 patients, nasal mucosa specimens for ultrastructural investigation were obtained. Ultrastructural alterations indicating PCD were found 4 of 9 specimens, in 2 specimens no cilia were found and in 3 specimens alterations indicating secondary inflammatory alterations were found. PCD may be efficiently excluded in several cases using cost-effective diagnostic techniques. The definite diagnosis in the remaining cases requires ultrastructural investigations which should be performed in specialized centers. In the present study, PCD in a carefully preselected group had a surprisingly high prevalence.