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RESEARCH PRODUCT
Primary ciliary dyskinesia. Ciliopathies
Julio Cortijo GimenoXavier Milara PayáMiguel Armengot CarcellerManuel Mata Roigsubject
Pathologymedicine.medical_specialtyBronchiectasisSterilityMucociliary clearancebusiness.industryCiliumGeneral MedicineAnatomymedicine.diseaseCiliopathiesSitus inversusRetinitis pigmentosaotorhinolaryngologic diseasesmedicineHumansbusinessCiliary Motility DisordersPrimary ciliary dyskinesiadescription
Abstract Primary ciliary dyskinesia is a genetically inherited syndrome characterised by ciliary immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections from birth, male sterility by spermatozoid immotility and situs inversus in 40%–50% of patients (Kartagener's syndrome). Diagnosis is made by analysing ciliary motility with high-speed digital video and ciliary ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2008-12-04 | Acta Otorrinolaringologica (English Edition) |