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Thorax doi:10.1136/thx.2008.110940

Simplified cell culture method for the diagnosis of atypical Primary Ciliary Dyskinesia

  1. Massimo Pifferi (m.pifferi{at}med.unipi.it)
  1. Department of Pediatrics, University of Pisa, Italy
    1. Francesca Montemurro
    1. Interdepartmental Research Center, Italy
      1. Angela M Cangiotti
      1. Institute of Normal Human Morphology, Electron Microscopy Unit, University of Ancona, Italy
        1. Vincenzo Ragazzo
        1. Department of Pediatrics, University of Pisa, Italy
          1. Maria Di Cicco
          1. Department of Pediatrics, University of Pisa, Italy
            1. Bruna Vinci
            1. Interdepartmental Research Center, Italy
              1. Giovanni Vozzi
              1. Interdepartmental Research Center, Italy
                1. Pierantonio Macchia
                1. Department of Pediatrics, University of Pisa, Italy
                  1. Attilio L Boner (attilio.boner{at}univr.it)
                  1. Department of Pediatrics, University of Verona, Italy
                    • Published Online First 21 September 2009

                    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 cilia was considered secondary to infections in 37 (63%) subjects. In the remaining 9 (15%) patients the diagnostic evaluation with CMA and TEM remained inconclusive. Ciliogenesis in culture allowed the diagnosis of PCD in 4 of these patients, it was indicative of a secondary defect in 2 subjects, and it was not helpful in the remaining 3 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.

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                      1. thx.2008.110940v1
                      2. 64/12/1077 most recent

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