title: Up to date on primary ciliary dyskinesia in children.
abstract: 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 culture evaluation 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 antiinflammatory option is suggested.
authors: Department of Paediatrics, University Hospital of Pisa, Pisa, Italy. Electronic address: m.pifferi@med.unipi.it.
authors: Massimo
authors: M
authors: Pifferi
authors: Maria
authors: M
authors: Di Cicco
authors: Martina
authors: M
authors: Piras
authors: Angela M
authors: AM
authors: Cangiotti
authors: Giuseppe
authors: G
authors: Saggese
mesh_terms: D054468:Axoneme / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation
keywords: Diagnosis; Genetic mutations; Monitoring; Primary ciliary dyskinesia; Treatment