Primary Ciliary Dyskinesia Symptoms and Diagnosis

What Are the Symptoms of PCD?

The symptoms and severity of PCD vary from person to person, and over time. Typically, the first symptoms occur very early in life. Newborns with PCD often suffer from respiratory distress and may need to be placed on oxygen for several days. As they get older they have frequent ear infections, runny nose and cough, but because these are also symptoms of many common childhood illnesses, it can take years to get a correct diagnosis.

The most common respiratory symptoms of PCD are:

• Chronic wet cough producing sputum, from infancy, that lasts for four weeks or longer
• Chronic nasal congestion including thick nasal drainage that may lead to sinusitis
• Recurring pneumonia or chest colds
• Chronic middle ear infections

About half of all people who have PCD have Kartagener's syndrome. This syndrome involves three disorders: chronic sinusitis, bronchiectasis and situs inversus (internal organs in positions opposite of what is normal).

How PCD Is Diagnosed

Early diagnosis of PCD is important because early treatment is considered essential to help slow the progression of PCD lung disease. However, diagnosing PCD can be challenging because there is no specific test for it. Usually, your doctor will begin by taking a detailed history and doing a physical exam. Then they may suggest running a series of tests such as blood tests, sputum tests, breathing tests or imaging tests, such as a CT scan or chest X-ray. This can help them rule out other possible diagnoses.

If, after initial testing, PCD is still suspected, your doctor may suggest consulting an ear, nose and throat specialist or a pulmonologist. Though there are several tests they can run, the most helpful in diagnosing PCD is a genetic test to determine whether you have faulty genes linked to the disease. They can also use an electron microscope to look at samples of your airway cilia.

Recently, other tests have become available, such as a nasal nitric oxide test that measures the level of nitric oxide when you breathe out. A radiolabeled particle test can help your doctor understand how well your cilia is working by having you breathe in and out particles that have a small, safe amount of radiation.