Bench To Bedside: New Findings in Primary Ciliary Dyskinesia

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

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Recent Developments in PCD

The initial description of Kartagener’s triad included situs inversus along with bronchiectasis and sinusitis. Because only one half of PCD patients have situs inversus and only one quarter of individuals with situs inversus have PCD, it raises the issue of the diagnostic value of finding situs inversus in determining whether a particular individual has PCD. It is becoming clear that the populations with PCD, Kartagener’s syndrome, and situs inversus have some overlap (Fig 3).

At this point, a few working assumptions can be made as the clinician considers the patient with chronic cough and sinusitis: (1) Approximately 50% of PCD patients will have situs inversus to complete the classic Kartagener’s syndrome triad. This means that the other 50% of PCD patients may have been missed. (2) Situs inversus may be present in individuals with no evidence of sinopulmonary disease who do not have PCD. (3) There are rare individuals with Kartagener’s triad who have no evidence of ciliary dysfunction or ciliary ultrastructural defects as can be detected with current techniques.

Establishing that an individual has PCD is important for several reasons: (1) The genetic cause of the patient’s symptoms is established so that appropriate education and counseling can begin; (2) additional invasive and expensive diagnostic tests can be avoided; (3) disease-management measures appropriate for chronic sinusitis and bronchiectasis can be put in place; and (4) complications such as pneumonia and hearing loss can be anticipated and hopefully prevented.

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