Diagnosing and Treating PCD
Although there is no proof that early diagnosis is important, it is likely to be highly beneficial, as it is with other chronic diseases. It stands to reason that early intervention should help to prevent early and long-term deterioration.
What to Expect
Generally, a careful history obtained by an experienced clinician is the first step in diagnosing PCD, followed by a careful examination and targeted tests. Such tests should include basic blood work, sputum tests to examine for the typical bacteria seen in PCD, as well as a chest X-ray and probably a CT scan of the chest. Breathing tests (pulmonary function tests; PFTs) will help the clinician assess for disease of the airway (obstructive lung disease). Often, at the end of these preliminary tests, the clinician should be in a position to say whether PCD is likely or not, although a specific diagnosis may not be possible at this point. More specific tests will be necessary to try to make the diagnosis.
How PCD Is Diagnosed
Since about the mid-1970s, the diagnosis of PCD relied on getting samples of the cells that contain cilia at their surface – either from the nose or the airways (windpipe or bronchial tubes). The cilia can be analyzed using special microscopes for the presence or absence of the proteins that help cilia beat normally. However, more recently, other tests have become available, such as measuring air extracted from the nasal passages for levels of nitric oxide. For reasons that are not clear, people with PCD have very low levels of nitric oxide gas in their nasal air. Although testing nitric oxide levels is a very easy test, it is only available at hospitals and a few outpatient facilities that have the equipment. Other tests include genetic tests, usually on blood samples. The number of genetic tests for PCD is steadily increasing, and it is likely that in the near future, more genetic tests will become available to diagnose the people who have PCD. Commercial genetic testing companies have begun to offer testing for some of the known genetic mutations; however, there is a cost for this type of testing.
How PCD Is Treated
Although there is no specific treatment that helps the cilia work properly, there are treatments for the effects on patients of having PCD. These treatments include:
- Antibiotics to address lung or sinus infections.
- Airway clearance techniques. These include breathing and coughing techniques, usually with the assistance of physical therapy or airway clearance devices. These techniques need to be done frequently to help the lung stay clear.
- New medicines are being tested; it is important to know whether PCD or another disease is the cause of bronchiectasis, and if they do, usually patients with PCD are included in such studies.
Probably the most important aspects of PCD are to:
- See the doctor regularly
- Have tests of breathing and sputum (for infections)
- Practice regular effective airway clearance
- Keep good health practices and follow the doctor's advice.
Last updated April 5, 2018.