[Primary ciliary dyskinesia: clinical and genetic aspects]. / Discinesia ciliare primitiva: aspetti clinici e genetici.
Pediatr Med Chir
; 34(3): 117-22, 2012.
Article
en It
| MEDLINE
| ID: mdl-22966723
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Kartagener
Tipo de estudio:
Clinical_trials
/
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Límite:
Child
/
Humans
Idioma:
It
Revista:
Pediatr Med Chir
Año:
2012
Tipo del documento:
Article
Pais de publicación:
Italia