Bench To Bedside: New Findings in Primary Ciliary Dyskinesia

By Joseph H. Sisson, MD; and Johnny L. Carson, PhD

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Summary

PCD is an unusual but important cause of lifelong chronic productive cough with sinusitis, bronchiectasis, hearing dysfunction, and impaired fertility. The clinician needs to consider PCD in all patients with such lifelong symptoms, especially when situs inversus is present. A diagnosis of PCD should be considered when abnormal findings are noted in the history, physical examination, mucociliary clearance functional testing, and ciliary motility. Until more specific diagnostic tests are available, the confirmation of the diagnosis of PCD still depends on ultrastructural detection of cilia defects by electron microscopy. Very low nasal nitric oxide levels are emerging as a new and interesting tool to detect PCD, although this test is still a research tool at this time. Gene-oriented approaches that extend research done in flagellar organisms are now allowing identification of the specific genetic defects that cause PCD in humans. Understanding how these defects alter ciliary motility may provide new insights into diagnostic and therapeutic approaches that will allow early detection and improved symptom management in patients with PCD. Treatment of PCD is largely symptomatic, centering on control of airway infections and measures that enhance pulmonary toilet. These measures are likely to affect long-term outcome. While a great deal of variation occurs related to the genetic heterogeneity of PCD, when PCD is diagnosed early and treated aggressively, most patients will have preserved lung functions and can lead relatively normal lives.

Readers are referred to two Web sites for more PCD information (including videos of normal and PCD cilia):

http://pediatrics.med.unc.edu/div/infectdi/pcd/
http://www.pcdfoundation.org/

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