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Pediatria pre prax 2/2014
Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disease characterized by abnormal ciliary structure and function. It manifests by impaired mucociliary clearance with subsequent upper and lower respiratory tract symptoms. It can be diagnosed by combination of clinical examination with functional, ultrastructural analysis of the cilia and genetic analysis. In this paper, we present recent diagnostic options in Slovakia including genetic analysis and dispensarization of PCD patients.
Keywords: primary ciliary dyskinesia, PCD, clinical picture, diagnostics, genetic analysis, therapy.
