Primary ciliary dyskinesia
Primary Ciliary Dyskinesia (PCD) is genetic disorder that affects the cilia, the small hair-like structures that line your nose, ears and lungs. Cilia move back and forth to move germs, mucus and dust out of your airways. In PCD the cilia don't work properly, so mucus and bacteria stay in the respiratory tract leading to frequent ear, sinus and lung infections.
Movement of cilia is also important in organ placement in the developing fetus. Approximately half of individuals with PCD have a disorder where the internal organs including the heart, liver, spleen, gallbladder and stomach are in different positions in the body.
Who should be tested?
We suggest having children evaluated at our center if they have two or more of the following characteristics:
- Respiratory distress at birth for unknown reasons
- Daily runny nose
- Daily cough, usually wet in nature from birth or very young age
- Organ laterality defects (internal organs in different positions in the body)
How we diagnose PCD
Currently, PCD is diagnosed by ciliary biopsy and genetic testing. Screening for levels of nasal nitric oxide (nNO) is also helpful as patients with PCD have lower levels than normal. nNO testing is often performed first - in patients over five years of age who can perform the test - to see if further PCD testing should be pursued. Other tests that may be performed to assess respiratory status include bronchoscopy, chest CT and spirometry.
How we treat PCD
There is no cure for PCD at this time. The main goals of care include:
- preventing infection
- removing mucus from the lungs
There are several ways to reach these goals:
Chest Physical Therapy (CPT)
CPT involves clapping over your chest to loosen mucus. This is often done by another person. There are also several devices to help such as vests or a hand-held device you breathe out through that rattles your chest.
Antibiotics are the main treatment for infections. These can be taken by mouth or for more serious infections through your blood by an IV while in the hospital.
Inhaled therapies such as albuterol and hypertonic saline (salt water) may be used to help open the airway and loosen mucus in the airways.
People with PCD need care from multiple specialists including pulmonologists, respiratory therapists, and ear, nose, and throat doctors. Vanderbilt Children's Hospital is an accredited PCD Center, meaning we have the diagnostic tools and specialists needed to diagnosis and care for children with this rare disease.