Primary ciliary dyskinesia overview
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Differentiating Primary ciliary dyskinesia from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]
Overview
Primary ciliary dyskinesia is an autosomal recessive disorder characterised by functional defects in the cilia resulting in a abnormal mucociliary clearance.Epithelial cells containing motile cilia are localised in the respiratory tree, oviduct, sperms, ventricles of the brain and embryonic node. Defects in the epithelial cells accounts for the majority of symptoms of PCD including sinusitis, otitis media and bronchiectasis. Situs inverses(in some patients) and rarely hydrocephalus. While the understanding of the cellular and molecular mechanisms responsible for these symptoms has progressed recently, genetic analysis has identified mutations in only two axonemal dynein genes that can account for abnormal cilia structure.
Historical Perspective
Classification
There is no established system for the classification of primary ciliary dyskinesia.