Using swabs or brushes of respiratory mucosal sites, one can perform wet-prep light microscopic exams to observe presence or absence of ciliary activity and the quality of the activity (is it rhythmic and coordinated?). The specimen is submitted within a container with a small amount of normal saline such as to act as a humidity chamber. After the diagnostic slide air dries out, it can be Wright's stained for a permanent view of the cilia. The goal should be to perform the exam in less than 30 minutes of the specimen acquisition (although I have seen good activity in an autopsy specimen 1-2 hours after death). [our first request on a respiratory specimen was in 2003...LMC-03-7751]

This group of disorders is thought to be inherited; about 1 in 70 is a carrier. Collectively, these cases are called "primary ciliary dyskinesia" (PCD). EM shows the structural abnormalities in PCD cases.

PCD cases present to doctors with manifestations of brochiectasis, chronic sinusitis, and male infertility (immotile or dysmotile sperm). About 30% have nasal polyposis; male infertility is the rule; chronic chronic cough with purulent sputum due to an ineffective respiratory muco-ciliary escalator.

True Kartagener's Syndrome (PCD plus situs inversus), with a prevelance of 1 in 32000 births, accounts for about half of the PCD cases (PCD about 1 in 16000 births).

(posted 22 November 2003)