[Congenital ciliary dyskinesia. Focus]

Details

Serval ID
serval:BIB_95EF63B4BF28
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
[Congenital ciliary dyskinesia. Focus]
Journal
Revue de pneumologie clinique
Author(s)
Tamalet A., Blanchon S.
ISSN
1776-2561 (Electronic)
ISSN-L
0761-8417
Publication state
Published
Issued date
08/2013
Peer-reviewed
Oui
Volume
69
Number
4
Pages
217-224
Language
french
Notes
Publication types: English Abstract ; Journal Article ; Review
Publication Status: ppublish
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.
Keywords
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
Create date
15/05/2020 16:27
Last modification date
16/05/2020 5:26
Usage data