Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3419718 | Revue de Pneumologie Clinique | 2013 | 8 Pages |
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
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Authors
A. Tamalet, S. Blanchon,