Primary Ciliary Dyskinesia Week

HomePatientsLung Disease Week at the ATS2019 ▶ Primary Ciliary Dyskinesia Week
Primary Ciliary Dyskinesia Week

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Welcome Message

Welcome to Primary Ciliary Dyskinesia (PCD) Week at the American Thoracic Society (ATS). PCD is a genetic condition in which clearance of mucus from the lungs, sinuses and ears is impaired. Bacteria can live in or colonize this stagnant mucus resulting in frequent infections of the lungs, sinuses, and ears. These repeated infections can eventually result in permanent lung damage characterized by scarring, bronchiectasis (dilated airways with concomitant airways obstruction), and hypoxemia (low oxygen levels in the body).

PCD is characterized by dysfunction of the motile (moving) cilia on airway epithelial cells, which results in impaired mucus clearance, mucus accumulation, and repeated infections. However, while PCD is defined by ciliary dysfunction, there are a variety of other clinical findings that may manifest in a given individual. For example, approximately 50% of people with PCD have situs inversus totalis (complete mirror-image reversal of internal organs, also known clinically as Kartagener syndrome), and some people with PCD have situs ambiguus (organ arrangement falling somewhere between normal and complete reversal), often with concomitant congenital heart defects.

The variety of clinical manifestations is related to the different genes that cause PCD, with 44 specific genes, most resulting in autosomal recessive inheritance, having been identified to date. However, these genes do not explain all the clinical and symptomatic manifestations of PCD, indicating that more research is needed to further understand the genetics and pathophysiology of this condition. Currently, genes causing PCD are found in 70% of cases, with likely many more genes remaining to be discovered.

The ATS supports research about PCD and provides resources to support best clinical practices in diagnosing and treating patients with this condition. The Public Advisory Roundtable (PAR) and the ATS have also produced educational materials for patients and families with PCD. The ATS anticipates that PCD Week will provide the general public and ATS members with resources for optimizing management of this condition, with the ultimate goal of identifying a cure for this condition.

 

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Jeremy B. Richards, MD, MA, ATSF   
Assistant Professor of Medicine
Beth Israel Deaconness Medical Center 

 

Michele Manion

Michele Manion
Founder and Executive Director, PCD Foundation
Member, ATS Public Advisory Roundtable

 

ATS Primary Ciliary Dyskinesia Partner
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The Primary Ciliary Dyskinesia Foundation is a not-for-profit 501(c)(3) patient advocacy foundation for individuals with inherited ciliary disorders and their caregivers. As a patient-focused organization, the PCDF’s mission 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 Reviewed: October 2019