Primary ciliary diskinesia (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 otits 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 knowledge of this condition. The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD.

Primary ciliary dyskinesia : clinical and genetic aspects / E. D'Auria, S. Palazzo, S. Argirò, S. El Oksha, E. Riva. - In: PEDIATRIA MEDICA E CHIRURGICA. - ISSN 0391-5387. - 34:3(2012 May), pp. 117-122.

Primary ciliary dyskinesia : clinical and genetic aspects

E. D'Auria
Primo
;
S. Palazzo
Secondo
;
S. Argiro';S. EL OKSHA
Penultimo
;
E. Riva
Ultimo
2012-05

Abstract

Primary ciliary diskinesia (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 otits 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 knowledge of this condition. The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD.
Settore MED/38 - Pediatria Generale e Specialistica
Article (author)
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/204314
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 4
  • ???jsp.display-item.citation.isi??? ND
social impact