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Bench To Bedside: New Findings in Primary Ciliary Dyskinesia

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

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Establishing the Presence of PCD

The evaluation for possible PCD should be considered in any patient with lifelong productive cough, sinusitis, and impaired fertility. A stepwise approach is suggested below.

  1. Exclude other causes of chronic productive cough and bronchiectasis:
    A. Cystic fibrosis: sweat chloride, cystic fibrosis genotyping
    B. Immunodeficiencies: quantitative immunoglobulins
    C. Foreign body: chest radiograph, chest CT scan, and bronchoscopy
    D. Gastroesophageal reflux: esophagogram and/or GI motility studies
    E. Infections: sputum culture for antibiotic-resistant pathogens
  2. Perform a test of mucociliary function:
    A. Nasal saccharine transit time test49 can be done in clinic and requires minimal training. Normal clearance time is ≤ 30 min, and > 30 min is abnormal. Repeat twice if abnormal or equivocal. False-positive results excluded by repeating tests on second day.
    B. Radionuclide clearance scan 50,51(available only in certain centers)
  3. Perform semen/sperm motility analysis (applicable for postpubertal male patients). Sperm may be absent from semen in PCD patients as a result of duct occlusion. The presence of motile sperm does not exclude PCD.45 If the results are all normal, PCD is very unlikely. If abnormal and/or equivocal, proceed to step 4.
  4. Measure ciliary motility:
    A. In vitro microscopy using nasal or bronchial epithelial biopsy tissue. Nasal tissue usually sufficient. Absent or low ciliary beat frequency (CBF) suggests PCD.52 May need to be repeated if no ciliated cells are obtained. Available only in certain centers.
    B. Finding beating cilia does not exclude PCD.22 Random cilia orientation with motile cilia can also cause PCD.
  5. Evaluate cilia axoneme anatomy with transmission electron microscopy of nasal or bronchial ciliated epithelial cells:
    A. Handling and preparation of specimens is critical for good electron microscopic images
    B. Sufficient numbers of axonemes must be analyzed to exclude sampling errors
    C. Defects must be consistently seen in a majority of axonemes

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