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Respiratory infection
Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia
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  1. M Pifferi1,
  2. F Montemurro2,
  3. A M Cangiotti3,
  4. V Ragazzo1,
  5. M Di Cicco1,
  6. B Vinci2,
  7. G Vozzi2,
  8. P Macchia1,
  9. A L Boner4
  1. 1
    Department of Pediatrics, University of Pisa, Italy
  2. 2
    Interdepartmental Research Center “E. Piaggio”, Faculty of Engineering, University of Pisa, Italy
  3. 3
    Institute of Normal Human Morphology, Electron Microscopy Unit, Umberto I° Hospital, University of Ancona, Italy
  4. 4
    Department of Pediatrics, University of Verona, Italy
  1. Correspondence to Dr M Pifferi, Department of Pediatrics, University of Pisa, Via Roma 67, 56126 Pisa, Italy; m.pifferi{at}med.unipi.it

Abstract

Background: The diagnosis of primary ciliary dyskinesia (PCD) can be challenging, and it may be particularly difficult to distinguish primary ciliary disease from the secondary changes after infections.

Objectives: The purpose of the study was to evaluate if nasal epithelial cells, obtained with nasal brushing instead of a biopsy, could be used in a culture system for the diagnosis of PCD in difficult cases.

Methods and main results: Ciliary motion analysis (CMA) and transmission electron microscopy (TEM) were performed on 59 subjects with persistent or recurrent pneumonia. These investigations allowed the diagnosis of PCD in 13 (22%) patients while the defect of the cilia was considered secondary to infections in 37 (63%) subjects. In the remaining nine (15%) patients the diagnostic evaluation with CMA and TEM remained inconclusive. Ciliogenesis in culture allowed the diagnosis of PCD in four of these patients, it was indicative of a secondary defect in two subjects, and it was not helpful in the remaining three patients.

Conclusions: Culture of cells obtained with brushing of the nasal turbinate is not a perfect test, nevertheless it may offer diagnostic help in doubtful cases of PCD.

https://doi.org/10.1136/thx.2008.110940

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    Footnotes

    • Funding Fondazione Cassa di Risparmio di Pisa, Italy.

    • Competing interests None.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Ethics approval Ethics approval for this study was obtained from the Hospital Ethics Committee of Pisa.

    • ▸ Additional methods and video clips are published online only at http://thorax.bmj.com/content/vol64/issue12