Primary ciliary dyskinesia

Common Name(s)

Primary ciliary dyskinesia, Immotile Cilia Syndrome

Primary ciliary dyskinesia is a genetic disease which affects the upper and lower airways of the lungs. Through an inherited defective gene, the cilia (tiny hair-like structures that move mucus out of the respiratory passages) in individuals affected by this condition are either immotile (unable to move) or dysmotile (they move incorrectly). As a result, the body is not able to keep the lungs and sinuses clear of fluids, which can lead to congestion, infection, and various other complications. Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.   
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary ciliary dyskinesia" for support, advocacy or research.

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PCD Family Support Group UK

Provide support to patients and their carers who have, or are suspected of having, PCD. Bring PCD to the attention of medics who may come across PCD and continue to provide an up to date information service for them and the general public. To promote research to aid diagnosis and treatment of patients with PCD. Support the NHS and other bodies to ensure patients have access to diagnostic services and on-going care. Fundraise to support the above activities.

Last Updated: 4 Aug 2015

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PCD Foundation

The mission of the PCD Foundation is to provide the leadership and resources needed to support increased research, accelerated diagnosis, improved health and, ultimately, a cure for primary ciliary dyskinesia.

Last Updated: 24 Oct 2012

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General Support Organizations

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How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Primary ciliary dyskinesia" for support, advocacy or research.

Logo
PCD Family Support Group UK

Provide support to patients and their carers who have, or are suspected of having, PCD. Bring PCD to the attention of medics who may come across PCD and continue to provide an up to date information service for them and the general public. To promote research to aid diagnosis and treatment of patients with PCD. Support the NHS and other bodies to ensure patients have access to diagnostic services and on-going care. Fundraise to support the above activities.

http://www.pcdsupport.org.uk

Last Updated: 4 Aug 2015

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PCD Foundation

The mission of the PCD Foundation is to provide the leadership and resources needed to support increased research, accelerated diagnosis, improved health and, ultimately, a cure for primary ciliary dyskinesia.

http://www.pcdfoundation.org

Last Updated: 24 Oct 2012

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General Support Organizations

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General Resources

PCDF Clinical Centers/Path to Clinical Trials Program

To accelerate research in PCD, the PCDF has established a 'Path to Clinical Trials' program consisting of accredited clinical centers for research and a national PCD patient registry.

Uploaded By: PCD Foundation

Updated 23 Oct 2012

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PCD Kid's Booklet

Resource for young children and their parents to help explain PCD

Uploaded By: PCD Foundation

Updated 24 Oct 2012

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PCD Fact Sheet

Overview of primary ciliary dyskinesia.

Uploaded By: PCD Foundation

Updated 24 Oct 2012

Open Doc
PCD Brochure in Spanish

Information about PCD in Spanish

Uploaded By: PCD Foundation

Updated 24 Oct 2012

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PCD Brochure in English

Information on primary ciliary dyskinesia.

Uploaded By: PCD Foundation

Updated 24 Oct 2012

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Blogs

PCD Foundation Blog

Updates on foundation activities with expert guest bloggers on occasion

Uploaded by: PCD Foundation

Updated 23 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Primary ciliary dyskinesia" returned 189 free, full-text research articles on human participants. First 3 results:

Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings.
 

Author(s): Sabine Dettmer, Felix Ringshausen, Jens Vogel-Claussen, Jan Fuge, Amir Faschkami, Hoen-Oh Shin, Nicolaus Schwerk, Tobias Welte, Frank Wacker, Jessica Rademacher

Journal:

 

Among patients with non-cystic fibrosis bronchiectasis, 1-18% have an underlying diagnosis of primary ciliary dyskinesia (PCD) and it is suspected that there is under-recognition of this disease. Our intention was to evaluate the specific features of PCD seen on computed tomography ...

Last Updated: 31 Dec 1969

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Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study.
 

Author(s): S Irving, S Carr, C Hogg, M Loebinger, A Shoemark, A Bush

Journal: Lung. 2017 Aug;195(4):441-443.

 

Primary ciliary dyskinesia is a condition in which abnormal cilia structure or function leads to reduced mucociliary clearance and obstructive lung disease. Twenty-nine patients had lung clearance index (LCI) measured in 2009 and we attempted to perform a 5-year follow-up. Only 12 ...

Last Updated: 31 Dec 1969

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Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy.
 

Author(s): Hamouda Samia, Boussetta Khadija, Hamzaoui Agnes, Khalsi Fatma, Trabelsi Ines, Jaafoura Hafedh, Tinsa Faten

Journal: Afr Health Sci. 2016 Dec;16(4):954-961.

 

Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Primary ciliary dyskinesia" returned 35 free, full-text review articles on human participants. First 3 results:

Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis.
 

Author(s): Christiaan Dm Wijers, James F Chmiel, Benjamin M Gaston

Journal: Chron Respir Dis. 2017 Nov;14(4):392-406.

 

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder associated with severely impaired mucociliary clearance caused by defects in ciliary structure and function. Although recurrent bacterial infection of the respiratory tract is one of the major clinical features of ...

Last Updated: 31 Dec 1969

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Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
 

Author(s): Adam J Shapiro, Margaret W Leigh

Journal: Ultrastruct Pathol. ;41(6):373-385.

 

Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, ...

Last Updated: 31 Dec 1969

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Clinical care for primary ciliary dyskinesia: current challenges and future directions.
 

Author(s): Bruna Rubbo, Jane S Lucas

Journal:

 

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia (PCD)

 

Last Updated: 13 Apr 2015

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Genetics of Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia; Kartagener Syndrome

 

Last Updated: 23 Apr 2018

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Registry for Primary Ciliary Dyskinesia
 

Status: Recruiting

Condition Summary: Primary Ciliary Dyskinesia

 

Last Updated: 31 Aug 2017

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