Primary ciliary dyskinesia: clinical and genetic aspects


Submitted: 18 November 2014
Accepted: 18 November 2014
Published: 30 June 2012
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Authors

  • E. D’Auria Clinica Pediatrica, ospedale San Paolo, Università degli Studi di Milano, Milano, Italy.
  • S. Palazzo Clinica Pediatrica, ospedale San Paolo, Università degli Studi di Milano, Milano, Italy.
  • S. Argirò Clinica Pediatrica, ospedale San Paolo, Università degli Studi di Milano, Milano, Italy.
  • S. El Oksha Clinica Pediatrica, ospedale San Paolo, Università degli Studi di Milano, Milano, Italy.
  • E. Riva Clinica Pediatrica, ospedale San Paolo, Università degli Studi di Milano, Milano, Italy.
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease, characterized by ciliary disfunction and impaired mucociliary clearance, resulting in a range of clinical manifestations such as chronic bronchitis, bronchiectasis, chronic rhino-sinusitis, chronic otitis media, situs viscerum inversus in almost 40-50% of cases and male infertility. The triad situs viscerum inversus, bronchiectasis and sinusitis is known as Kartagener syndrome. Up to now little is known about genetic, diagnostic and therapeutic aspects of primary motile ciliary diseases in children: for this reason, diagnosis is generally delayed and almost all treatments for PCD are not based on randomized studies but extrapolated from cystic fibrosis guidelines. The aim of this review is to propose to pediatricians a summary of current clinical and diagnostic evidence to obtain better knoledwge of this condition. The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD.

D’Auria, E., Palazzo, S., Argirò, S., El Oksha, S., & Riva, E. (2012). Primary ciliary dyskinesia: clinical and genetic aspects. La Pediatria Medica E Chirurgica, 34(3). https://doi.org/10.4081/pmc.2012.76

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