Primary ciliary dyskinesia: Difference between revisions

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==[[Primary ciliary dyskinesia historical perspective|Historical Perspective]]==
==[[Primary ciliary dyskinesia historical perspective|Historical Perspective]]==
In 1981, Rossman and coworkers came up with the primary ciliary dyskinesia PCD.
==[[Primary ciliary dyskinesia classification|Classification]]==
==[[Primary ciliary dyskinesia classification|Classification]]==
There is no established system for the [[classification]] of [[primary ciliary dyskinesia]].
==[[Primary ciliary dyskinesia pathophysiology|Pathophysiology]]==
==[[Primary ciliary dyskinesia pathophysiology|Pathophysiology]]==
In many people with [[primary ciliary dyskinesia]], the cause of the disease is unknown, but the main factor contributing to the pathogenesis is [[mutations]] in the [[proteins]] forming the [[cilia]] which result in the formation of abnormal or [[Cilia|immotile cilia]]. Clearly, cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms.
==[[Primary ciliary dyskinesia causes|Causes]]==
==[[Primary ciliary dyskinesia causes|Causes]]==
There are no established causes for Primary ciliary dyskinesia.PCD is related to defects in [[mucociliary clearance]] due to abnormal ciliary structure. [[Mutations]] in around 46 different [[genes]] throughout the [[genome]] have been found to be causative. Some of these include [[DNAH5]], CCDC39, [[DNAI1]], CCDC40, [[DNAH11]], ZMYND10, [[CCDC151|CCDC103, CCDC151]] and ARMC4.
==[[Primary ciliary dyskinesia differential diagnosis|Differentiating Primary ciliary dyskinesia from other Diseases]]==
==[[Primary ciliary dyskinesia differential diagnosis|Differentiating Primary ciliary dyskinesia from other Diseases]]==
Primary ciliary dyskinesia must be differentiated from other conditions that cause [[infertility]], [[sinusitis]], [[otitis media]], and [[rhinitis]].
==[[Primary ciliary dyskinesia epidemiology and demographics|Epidemiology and Demographics]]==
==[[Primary ciliary dyskinesia epidemiology and demographics|Epidemiology and Demographics]]==
[[Primary ciliary dyskinesia]] (PCD) is generally documented as [[etiology]] of [[bronchiectasis]] not only in children or young adults but also in older patients. It is challenging to demonstrate the [[prevalence]] of PCD in diverse population with estimates varying between one in 4000 to one in 40,000. PCD is linked with the high levels of [[consanguinity]]. Clinical suspicion of PCD is high in these communities, chronic cough and nasal symptoms should rise concern for prompt diagnostic testing.
==[[Primary ciliary dyskinesia risk factors|Risk Factors]]==
==[[Primary ciliary dyskinesia risk factors|Risk Factors]]==
There are no established [[risk factors]] for [[primary ciliary dyskinesia]].
==[[Primary ciliary dyskinesia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Primary ciliary dyskinesia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
The long-term effects of [[primary ciliary dyskinesia]] (PCD) are dependent on respiratory symptoms. PCD is not considered to be life-threatening, but persistent lung and airway disease can lead to permanent damage. Recurrent ear infections can lead to [[Hearing loss|hearing los]]<nowiki/>s, which is sometimes permanent, prompt diagnosis and early treatment improve long-term outcomes.
==Diagnosis==
==Diagnosis==


[[Primary ciliary dyskinesia diagnostic study of choice|Diagnostic study of choice]]  
[[Primary ciliary dyskinesia diagnostic study of choice|Diagnostic study of choice]]
 
*A high level of suspicion is required to warrant early [[diagnosis]] and initiation of appropriate management before irreversible [[lung]] damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as [[rhinitis]], [[Rhinosinusitis|rhino-sinusitis]], [[infertility]], recurrent [[otitis media]] should seek medical care and undergo further testing[[Nitric oxide|. Nasal nitric oxide]] levels are low in PCD and should be performed as a screening test. [[Transmission electron microscopy]] to assess the ultrastructure of [[cilia]] is another important investigation that can confirm the diagnosis.


[[Primary ciliary dyskinesia history and symptoms|History and Symptoms]]
[[Primary ciliary dyskinesia history and symptoms|History and Symptoms]]
*Patients with [[primary ciliary dyskinesia]] may present in early [[infancy]] with [[respiratory distress]] or later in life with [[chronic bronchitis]], persistent [[rhinorrhea]], [[sinusitis]], [[bronchiectasis]], or male [[infertility]].
[[Primary ciliary dyskinesia physical examination|Physical Examination]]
[[Primary ciliary dyskinesia]] has no characteristic physical examination findings, however, any clue to recurrent [[Sinusitis|sinus infections]] or [[respiratory distress]] should raise concern for diagnosing [[primary ciliary dyskinesia]].


[[Primary ciliary dyskinesia laboratory findings|Laboratory Findings]] | [[Primary ciliary dyskinesia electrocardiogram|Electrocardiogram]] | [[Primary ciliary dyskinesia x ray|X-Ray Findings]] | [[Primary ciliary dyskinesia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Primary ciliary dyskinesia CT scan|CT-Scan Findings]] | [[Primary ciliary dyskinesia MRI|MRI Findings]] | [[Primary ciliary dyskinesia other imaging findings|Other Imaging Findings]] | [[Primary ciliary dyskinesia other diagnostic studies|Other Diagnostic Studies]]
[[Primary ciliary dyskinesia laboratory findings|Laboratory Findings]] | [[Primary ciliary dyskinesia electrocardiogram|Electrocardiogram]] | [[Primary ciliary dyskinesia x ray|X-Ray Findings]] | [[Primary ciliary dyskinesia echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Primary ciliary dyskinesia CT scan|CT-Scan Findings]] | [[Primary ciliary dyskinesia MRI|MRI Findings]] | [[Primary ciliary dyskinesia other imaging findings|Other Imaging Findings]] | [[Primary ciliary dyskinesia other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==Treatment==
[[Primary ciliary dyskinesia medical therapy|Medical Therapy]]  
[[Primary ciliary dyskinesia medical therapy|Medical Therapy]]
 
There are no definite [[treatment]] options, the goal is to manage associated conditions that can lead to worsening of PCD.


[[Primary ciliary dyskinesia interventions|Interventions]]
[[Primary ciliary dyskinesia interventions|Interventions]]


There are no established measures for [[interventions]] of [[Primary Ciliary Dyskinesia|Primary ciliary dyskinesia]].
[[Primary ciliary dyskinesia surgery|Surgery]]
 
[[Primary ciliary dyskinesia surgery|Surgery]]
 
There are no established surgical [[Indications and usage|indications]] for [[primary ciliary dyskinesia]].
 
[[Primary ciliary dyskinesia primary prevention|Primary Prevention]]  


There are no established measures for the [[primary prevention]] of [[primary ciliary dyskinesia]].
[[Primary ciliary dyskinesia primary prevention|Primary Prevention]]


[[Primary ciliary dyskinesia secondary prevention|Secondary Prevention]]
[[Primary ciliary dyskinesia secondary prevention|Secondary Prevention]]
There are no established measures for the [[secondary prevention]] of [[primary ciliary dyskinesia]].


| [[Primary ciliary dyskinesia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Primary ciliary dyskinesia future or investigational therapies|Future or Investigational Therapies]]
| [[Primary ciliary dyskinesia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Primary ciliary dyskinesia future or investigational therapies|Future or Investigational Therapies]]

Latest revision as of 15:02, 7 September 2021

Primary ciliary dyskinesia
ICD-10 Q89.3
ICD-9 759.3
OMIM 244400 242650
DiseasesDB 7111 Template:DiseasesDB2
MeSH D002925

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Synonyms and keywords: PCD; immotile ciliary syndrome; Kartagener Syndrome; ciliary motility disorder; immotile cilia; ciliary dyskinesia

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Primary ciliary dyskinesia from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic study of choice

History and Symptoms

Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

| Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case#1


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