1. Dyskinésie ciliaire primitive
- Author
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Escudier, E., Tamalet, A., Prulière-Escabasse, V., Roger, G., and Coste, A.
- Subjects
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RESPIRATORY diseases , *MUCOCILIARY system , *BRONCHIECTASIS , *MICROTUBULES - Abstract
Abstract: Primary ciliary dyskinesia (PCD, MIM 242650) is an inherited respiratory disease caused by functional and ultrastructural abnormalities of respiratory cilia. This disorder, which affects 1 in 16,000 individuals, is usually transmitted as an autosomal recessive trait. In half the cases, PCD is associated with situs inversus (Kartagener syndrome). PCD is characterized by impaired mucociliary clearance resulting from a lack of ciliary motion, which is responsible for recurrent respiratory infections. The most frequent and first identified ciliary defect involves the dynein arms. The genetic heterogeneity underlying PCD is extremely important, and only three genes have as yet been identified in a few PCD patients with absence of outer dynein arms. The main clinical symptoms, at pulmonary and ENT levels, the abnormalities of ciliary structure and function, and the molecular basis of PCD will be reported in this review. [Copyright &y& Elsevier]
- Published
- 2006
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