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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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

Pathophysiology

Causes

Differentiating Primary ciliary dyskinesia from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

References

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