[Congenital ciliary dyskinesia. Focus]

Détails

ID Serval
serval:BIB_95EF63B4BF28
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
[Congenital ciliary dyskinesia. Focus]
Périodique
Revue de pneumologie clinique
Auteur(s)
Tamalet A., Blanchon S.
ISSN
1776-2561 (Electronic)
ISSN-L
0761-8417
Statut éditorial
Publié
Date de publication
08/2013
Peer-reviewed
Oui
Volume
69
Numéro
4
Pages
217-224
Langue
français
Notes
Publication types: English Abstract ; Journal Article ; Review
Publication Status: ppublish
Résumé
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.
Mots-clé
Adult, Age Factors, Child, Cilia/physiology, Cilia/ultrastructure, Ciliary Motility Disorders/congenital, Ciliary Motility Disorders/diagnosis, Ciliary Motility Disorders/epidemiology, Ciliary Motility Disorders/therapy, Disease Progression, Drainage/methods, Genetic Predisposition to Disease/epidemiology, Humans, Prevalence, Children, Ciliary dyskinesia, Diagnosis, Diagnostic, Dyskinésie ciliaire, Enfant, Kartagener syndrome, Syndrome de Kartagener
Pubmed
Web of science
Création de la notice
15/05/2020 16:27
Dernière modification de la notice
16/05/2020 5:26
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