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

Massimo Pifferi ^1*, Francesca Montemurro ², Angela M Cangiotti ³, Vincenzo Ragazzo ¹, Maria Di Cicco ¹, Bruna Vinci ², Giovanni Vozzi ², Pierantonio Macchia ¹ and Attilio L Boner ⁴

¹ Department of Pediatrics, University of Pisa, Italy
² Interdepartmental Research Center, Italy
³ Institute of Normal Human Morphology, Electron Microscopy Unit, University of Ancona, Italy
⁴ Department of Pediatrics, University of Verona, Italy

^* To whom correspondence should be addressed. E-mail: m.pifferi{at}med.unipi.it.

Accepted 2 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.