Information for Patients
What Is PCD?
PCD stands for primary ciliary dyskinesia, an umbrella term for a group of inherited disorder of motile (moving) cilia. PCD is also sometimes referred to as Kartagener syndrome (PCD with situs inversus) or immotile cilia syndrome.
How is PCD Diagnosed?
PCD diagnosis is challenging and most often requires a combination of several diagnostic tests including ciliary biopsy, nasal nitric oxide measurement and genetic testing. Interpretation of these tests is best done at specialized centers familiar with the disorder.
PCD Early Presentation is Key for Diagnosis
For patients and parents, early clues to diagnosis include respiratory problems that begin at birth or within the first few months of life including daily wet-sounding cough, daily nasal congestion and frequent ear infections. These symptoms do not change with the seasons or get better with age.
Conditions Associated with PCD
The most common clinical problems encountered in PCD are related to the upper (ears and sinuses) and lower (lungs) respiratory systems and organs of reproduction. However, ciliary motility is also required for organ placement in the developing embryo so organ placement issues (laterality defects) affect about 50% of those with PCD. Infertility is common in males and females may also experience subfertility. Other conditions that can rarely co-occur with PCD include congenital heart defects, hydrocephalus and retinal disorders of the eye.
Staying healthy with PCD
A healthy body is better able to deal with bacteria and chronic lung infection, which makes this mission critical for people with PCD. An active lifestyle also encourages airway clearance, a daily need for those with PCD. https://pcdfoundation.org/living-with-pcd/
PCD at Work and School
Managing the daily therapies and chronic infections associated with PCD can sometimes present challenges for school and work attendance. Frequent absences due to illness are common for many with PCD and it may be helpful for families to arrange Individual Education Plans (IEPs) or 504 plans with their schools. For some adults with advanced lung disease due to PCD, working may not be an option. In these cases, disability programs can be helpful. https://pcdfoundation.org/living-with-pcd/
Research in PCD
New understanding of the role of cilia in human health, phenotypic (clinical presentation) overlaps between motile and non-motile ciliary disorders and increased appreciation for the clinical consequences of ciliary disorders makes this an ideal time to push for further investigation. The PCD Foundation partnership with ATS to provide a research grant is just one example of the exciting opportunities for research currently underway. https://pcdfoundation.org/research-2/
ATS Patient Information Series
Primary Ciliary Dyskinesia (PCD)
Oxygen Therapy
Oxygen Therapy for Children
Pulmonary Rehabilitation
