PURPOSE: Kartagener's syndrome (KS), consisting of sinus abnormalities, bronchiectasis, and situs viscerum inversus, is part of the group of disorders referred to as primary ciliary dyskinesia (PCD), that is investigated by recovering epithelial cells either with mucosal biopsy or through nasal brushing. However, it is retained that nasal brushing frequently yields inadequate specimens. The aim of this study was to evaluate the diagnostic role of nasal brushing in patients with KS.
METHODS: We studied 10 patients (4M, 6F, 3–62 yrs), during exacerbation-free periods. For each patient, one nasal sample of respiratory epithelium was obtained by brushing the inferior turbinate using a cytobrush (Rambrush, RI.MOS., Mirandola, Italy). The samples were fixed in 2.5% cacodylate-buffered glutaraldehyde and sent to the department of human pathology, for ultrastructural analysis. The specimens were prepared for conventional electron microscopy and examined in a Philips EM 208 electron microscope. At least 50 cross sections of different cilia from different cells were observed in each specimen to study axoneme structure. Only orthogonally cross-sectioned cilia were evaluated, excluding those cut near the base or tip.
RESULTS: The 10 nasal brushing led to these ultrastructural ciliary findings: 5 patients with outer dynein arm deficiency, 2 with inner dynein arm absence, and 1 patient lacking both inner and outer dynein arms. No respiratory cilia were detected in 2 samples (20%). However, one of this 2 non-diagnostic samples was repeated and the presence of microtubular abnormalities and central pair alterations was detected.
CONCLUSION: In conclusion in this study we have demonstrated that nasal brushing is an easy, cheap, and efficient tool for detecting ciliary abnormalities by transmission electron microscopy in patients with KS. Ultrastructural ciliary findings, clearly identified and classified, will be correlated with DNA mutations in a parallel study.
CLINICAL IMPLICATIONS: Mucosal biopsy is currently considered the “gold standard” for PCD diagnosis. However, the percentage of inadequate specimens obtained by nasal brushing in our study is similar to that reported for mucosal biopsy, and can be further reduced by doubling the samples.
DISCLOSURE: Nicola Ciancio, No Financial Disclosure Information; No Product/Research Disclosure Information