Primary Ciliary Dyskinesia (PCD) is an inherited (autosomal recessive) condition, that affects approximately one in 7,500 people. Mutations in approximately 50 genes have been found to cause PCD. This leads to a range in disease severity.
One in 20 people are carriers, with one affected copy of a gene that causes PCD. Leaders in the field think that carriers might have a separate set of symptoms that overlap with difficult-to-treat asthma.
What are Cilia?
Cilia are like microscopic hairs that are found throughout the body, including in the airways and sinuses. Here they beat to clear out secretions and infections.
In PCD, the cilia are abnormal and unable to move in the usual way. This means that secretions and infections affect the lungs, sinuses, ears and nose. Cilia are also important for the propulsion of sperm, so fertility is commonly affected as well.
The top video is of healthy cilia. The beat pattern to sweep out the mucous, debris and micro-organisms can be seen. In PCD, cilia either don’t move normally, or don’t move at all (bottom video).
At present the respiratory aspect of PCD is managed by a brutal regimen of chest physiotherapy to try to prevent lung function decline. There are no dedicated treatments for PCD. Instead, current treatments have been borrowed from experience with people who have cystic fibrosis (CF). Physiotherapy is supplemented with frequent courses of antibiotics to treat and reduce episodes of pneumonia. This is a significant burden on people with PCD and their families.