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Primary Ciliary Dyskinesia Symptoms and Diagnosis

Infant on oxygen in the NICU Infant on oxygen in the NICU

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 supplemental 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 before all the pieces are put in place to get a correct diagnosis.

The most common respiratory symptoms and complications 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
  • Nasal Polyps
  • Recurring pneumonia or chest colds
  • Bronchiectasis
  • Atelectasis
  • Chronic middle ear infections
  • Hearing loss

About half of all people who have PCD also have Kartagener's syndrome. This syndrome involves requires the presence of chronic sinusitis, bronchiectasis and situs inversus (internal organs in positions opposite of what is normal). Nowadays it is referred to as PCD with situs inversus.

Severe PCD can lead to respiratory failure. When respiratory failure occurs, the lungs fail to get enough oxygen into the blood and organs of the body. This is a serious condition that makes breathing on your own difficult.

How is PCD Diagnosed?

Early diagnosis of PCD is important because early intervention can help slow the progression of PCD and minimize lung damage. However, diagnosing PCD can be challenging because there is no specific test that diagnoses PCD with 100% certainty.  Additionally, PCD is often mistaken for other chronic conditions.

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 and see how extensive the damage to your lungs is.

Genetic testing and ciliary biopsy are the two widely accepted methods for diagnosing PCD. Genetic testing uses blood or saliva to identify mutations in genes that cause abnormal cilia. Ciliary biopsy takes a sample of the cilia from inside of your nose or trachea. They are then processed under electron microscopy.

Other tests may be done as a supplemental screening component but cannot definitively diagnose PCD. Nasal nitric oxide measurement is one of these screening tools. This test measures your levels of nitric oxide when exhaling. Those with PCD have lower levels, but the cause is unknown. Radiolabeled particle testing is another test that can help identify signs of PCD but cannot be used for diagnosing alone. In this test, you will breathe in particles that have a safe level of radiation attached. Your HCP will monitor how quickly your lungs are able to remove the particles. If it takes longer than normal, this could indicate an issue with your cilia.

When Should I See a Healthcare Provider?

If you have a family history of PCD, have been diagnosed with bronchiectasis, situs inversus or experience any of the above symptoms, you should consult your doctor and think about seeing a lung specialist. Making notes before your visit, as well as taking along a trusted family member or friend, can help you through an appointment with your healthcare provider about PCD.

Reviewed and approved by the American Lung Association Scientific and Medical Editorial Review Panel.

Page last updated: August 6, 2026

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