Primary ciliary dyskinesia overview: Difference between revisions
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==Overview== | ==Overview== | ||
Primary ciliary dyskinesia is an [[autosomal recessive]] disorder characterised by functional defects in the [[cilia]] resulting in a abnormal mucociliary clearance. | 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== | ==Historical Perspective== | ||
Revision as of 11:00, 30 July 2021
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Primary ciliary dyskinesia Microchapters |
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Differentiating Primary ciliary dyskinesia from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Primary ciliary dyskinesia overview On the Web |
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American Roentgen Ray Society Images of Primary ciliary dyskinesia overview |
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Risk calculators and risk factors for Primary ciliary dyskinesia overview |
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.