Primary Ciliary Dyskinesia (PCD)
PCD (also known as “Kartageners Syndrome”, or “Immotile Cilia Syndrome”) is a disease that causes a chronic cough, recurrent infections of the lung (bronchitis and/or pneumonia), and scarring of the airways (bronchiectasis). It also causes chronic sinusitis, and ear infections (otitis media). It also associated with situs inversus totalis (mirror image organ placement).
The cause of this disease lies in malfunctioning cilia (tiny microscopic hair-like structures). Cilia lines the entire respiratory tract (lungs, nose, sinuses, middle ear). Cilia defends these surfaces by moving any inhaled particles (e.g. bacteria) forward out of the lung, like a miniature escalator. In patients with PCD, the cilia are not constructed properly at a microscopic level – some of the parts of the cilia are either missing altogether, or are in the wrong place. The building blocks of the cilia are very complex structures, and are really like a very tiny efficient piece of machinery. If all the parts are not in place, the cilia either do not beat, or beat improperly. Classic PCD is associated with abnormalities in the structure of cilia. We are defining the ciliary phenotype in more considerable detail as part of the studies.
Since these building blocks are complex, the genes for these building blocks are also complex. To find the genes causing the disease is important because we can further understand the function of the cilia and perhaps devise more efficient treatments. This is a large undertaking, involving experts in lung diseases, sinus and ear diseases, genetics, biology, and function of cilia. We think the best way to focus the search is to evaluate families with at least one or more members with PCD. Family studies makes it easier to track genes and figure out which genes might be associated with disease. Preliminary studies have elucidated some genetic mutations associated with PCD (see references below).
Treatment methods for PCD are currently similar to any chronic sinopulmonary infection – airway clearance, judicious use of antibiotics, surveillance of lung function, bacteriology. Routine treatment for PCD is provided through the Pulmonary clinic located on the 3rd floor in the Ambulatory Care Center (ACC).
The University of North Carolina at Chapel Hill has a large research group with an interest in Primary Ciliary Dyskinesia (PCD). We perform research on PCD and provide treatment for patients with the disease. We are trying to identify criteria to help stratify patients by the type of disease they have and ultimately are trying to identify the genetics of PCD. To help us do this we are interested in contact from families with members affected by PCD in order to build a national database of patients and families.
Research may, for example, target new treatments to aid cough clearance in PCD patients. Future research will consist of establishing a database of patients with PCD, testing candidate genes in patients with specific subtypes of PCD, and looking at ways to identify carriers of the mutations to aid in genetic testing. We are also in collaboration with several international groups aimed at establishing a DNA database.
Research studies are ongoing at UNC and certain patients with PCD may be eligible to participate. See below for contact information.
Participation in Research
Families interested in participating in research studies are invited to contact us. For pediatric patients, please contact Dr. Margaret Leigh at (919) 966-1055, or by e-mail at firstname.lastname@example.org; for adult patients use any of the contacts listed below.
|Mike Knowles, MDemail@example.com
|Margaret Leigh, MDfirstname.lastname@example.org
|Wanda O’Neal, PhDemail@example.com|
|Larry Ostrowski, PhDfirstname.lastname@example.org|
|Maimoona Zariwala, PhDemail@example.com|
|Kenneth Oliver, MDfirstname.lastname@example.org|
Or write to us at:
PCD Research Group UNC Chapel Hill
125 Mason Farm Road, Room 7215
Chapel Hill, NC 27599-7248
PCD Links and References
These links may provide further information on PCD or connect you with other people interested in the disease.