title: [Congenital ciliary dyskinesia. Focus].
abstract: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia. Prevalence, about 1/15,000 to 1/30,000, is probably underestimated, as diagnosis might not be evocated in absence of Kartagener syndrome. Diagnosis is confirmed in presence of abnormal ciliary motility as well as ciliary ultrastructure. Disease-causing mutations in at least 16 genes have already been identified; analysis will be guided by the type of ultrastructural abnormalities. An early and adequate diagnosis and therapy can theoretically improve the prognosis of the disease.
authors.affiliation: Inserm UMR S-938, centre de référence des maladies respiratoires rares, service de pneumologie pédiatrique, hôpital Armand-Trousseau, AP-HP, 75571 Paris cedex 12, France. aline.tamalet@cegetel.net
authors.forename: A
authors.initials: A
authors.lastname: Tamalet
authors.forename: S
authors.initials: S
authors.lastname: Blanchon
mesh_terms: D000328:Adult; D000367:Age Factors; D002648:Child; D002923:Cilia / Q000502:physiology / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D018450:Disease Progression; D004322:Drainage / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D015995:Prevalence
keywords: Children; Ciliary dyskinesia; Diagnosis; Diagnostic; Dyskinésie ciliaire; Enfant; Kartagener syndrome; Syndrome de Kartagener