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"Clinical and molecular aspects of primary ciliary dyskinesia (PCD)"

Jerusalem - 29-30 January, 2014 read more

"Up to date on primary ciliary dyskinesia in children"

Pifferi M, Di Cicco M, Piras M, Cangiotti AM, Saggese G. Early Hum Dev. 2013 Aug 21. more

"A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia."

Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S, more

"Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia."

Shoemark A, Dixon M, Corrin B, Dewar A.- J Clin Pathol. 2012 Mar;65(3):267-71 read more


"Up to date on primary ciliary dyskinesia in children"


Primary ciliary dyskinesia (PCD) is a congenital, clinically and ultrastructurally heterogeneous disease due to abnormal structure and/or function of cilia, with impaired mucociliary transport leading to several respiratory disorders. PCD can be diagnosed by the combination of thorough clinical examination with functional and ultrastructural analysis of the cilia. This paper shows progresses in PCD diagnosis obtained by ciliogenesis in cultureevaluation of ciliated respiratory cells and by genetic analysis of mutations in candidate genes. Moreover, since to date no specific treatments are available to correct the ciliary dysfunction, the paper shows the proper therapeutical approach by the use of respiratory physiotherapy and regular exercise to favour airways clearance, by antibiotics administration to control acute airway infections. Macrolides administration as antinflammatory option is suggested.