Primary Ciliary Dyskinesia What Is Primary Ciliary Dyskinesia?
Primary ciliary dyskinesia, or PCD, is a rare disease that affects the tiny, hairlike structures (cilia) that line the airways. It affects approximately 1 in every 10,000 to 30,000 people.
Cilia move together in wavelike motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles.
Some people are born with problems with the cilia that prevent them from moving the mucus out of the airways. This can cause mucus to build up and lead to breathing problems and infections. PCD affects mainly the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth.
PCD is an inherited disease. “Inherited” means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved.
The symptoms and severity of PCD vary from person to person. You may have only mild symptoms at first, and they may get worse over time.
A correct and early diagnosis of PCD is very important. Currently, there is no treatment to fix the cilia, but an early diagnosis can allow you or your child to treat sinus and lung infections and take other steps needed to keep the airways and lungs as healthy as possible. This can also help prevent or delay lung damage.
Many people who have PCD generally live an active life and have a normal lifespan. However, PCD can lead to serious problems. If you have PCD, you are at risk of repeated respiratory infections and pneumonia. This can lead to bronchiectasis. Men who have PCD are usually unable to have children, and women who have PCD may have problems getting pregnant. Sometimes PCD can cause respiratory failure.