Bench To Bedside: New Findings in Primary Ciliary Dyskinesia

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

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Clinical Findings in PCD

It is important to recognize that PCD is a syndrome. All patients with PCD have in common the clinical manifestations of impaired mucociliary clearance, so they present with lifelong productive cough, sinusitis, and an increased risk for hearing loss, reduced fertility, and headaches. These organ-specific manifestations (Fig 1) largely reflect the location of ciliated epithelial cells (lung, sinuses, inner ear, brain ependyma, oviduct) or flagella (sperm). Because each specific genetic defect alters cilia and flagellar function in different ways, the clinical presentation of a specific individual will vary depending on the nature of the genetic cilia defect and the phenotypic dyskinesia conferred by the defect. As indicated earlier in the review, we are only beginning to relate specific individuals to specific gene abnormalities and clinical manifestations.

The most common presenting symptoms of PCD are cough and sinusitis with an onset at an early age. Productive cough since birth is crucial to establish from the history, since cough is the only collateral mechanism by which mucus is cleared from the airways of PCD patients.^42-44 In contrast to PCD, acquired productive cough (seen in non-PCD patients) caused by viral infection, smoking, or asthma occurs later in life and, with the exception of bronchiectasis, usually remits spontaneously or with appropriate treatment. Sputum from PCD patients is usually purulent and high in volume depending on the degree of airway colonization that is present. The same impaired mucociliary clearance that causes chronic cough results in poorly drained and chronically colonized or infected sinuses. Chronic sinusitis, characterized by chronic sinus drainage and nasal stuffiness, is almost universal in PCD and, like the productive cough, is usually a lifelong symptom.

Impaired fertility is another frequent but nondiagnostic finding in PCD. Infertility in men with PCD is very common likely due to both impaired sperm motility and seminal ductal obstruction. Although there are reports of successful conceptions from men with PCD,⁴⁵ it is rare and often paternity was not documented. In vitro fertilization has resulted in successful pregnancies using sperm from men with PCD.^46,47 Women with PCD have significantly reduced fertility with only three out of 12 being able to conceive in one small series.⁴⁸ Importantly for the clinician, an infertility history may suggest PCD and should be routinely part of the evaluation of a patient with symptoms of lifelong cough and/or chronic sinusitis. In addition to PCD, other conditions must be considered in the differential diagnosis including Young’s syndrome, variant cystic fibrosis, and congenital bilateral absence of the vas deferens.

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