Primary Ciliary Dyskinesia

Is Testing Right for Me? I Have My Test Results

Primary Ciliary Dyskinesia

What Is Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia (PCD) is an inherited condition caused by abnormalities in the cilia. PCD is sometimes referred to as immotile cilia syndrome. Cilia are tiny, finger-like structures that move on the outside of some cells in the body. In the lungs and sinuses, they help sweep mucus so that it can be coughed out.  Cilia are also important in the ears. They share structure with the tails of sperm, affecting their ability to swim.

Lung Cilia

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Signs and Symptoms

People with PCD usually have some combination of the following signs and symptoms:

  • Neonatal respiratory distress syndrome (difficulty breathing right after birth)
  • Chronic cough and excess mucus
  • Frequent lung infections (pneumonia, bronchitis) and sinus infections
  • Frequent ear infections, sometimes with hearing loss
  • Bronchiectasis (damage to the airway from recurrent infections and inflammation)
  • Complete or partial left-right reversal of the organs
  • Infertility, especially in males due to poor sperm movement

Kartagener Syndrome

About half of people with PCD have Kartagener syndrome. In Kartagener syndrome, the heart, liver, spleen, and intestines are 'flipped'. Sometimes all of the organs are reversed, and sometimes only some of them are. The organs often work normally, but people with Kartagener syndrome sometimes have birth defects, especially in the heart.

Next: Who Is At Risk For Primary Ciliary Dyskinesia?

Why are you considering genetic testing?

I think I might have primary ciliary dyskinesia, but I haven't seen a doctor yet.

I have a known or likely diagnosis of primary ciliary dyskinesia, but have not yet had genetic testing.

I have a child with primary ciliary dyskinesia and want genetic testing for family planning purposes.

Genetic testing isn't the first step. You should see your doctor for a full exam and review of your symptoms and history.

The symptoms you may feel from primary ciliary dyskinesia (PCD) are very similar to symptoms caused by several other lung conditions. There are a number of tests that doctors can use to test how well your lungs are working and look for the possible cause of your symptoms.

Genetic testing shouldn't be considered until you have been given a definite or likely diagnosis of PCD and all of the other known causes have been ruled out.

Genetic testing may be useful for you. Testing is usually considered to confirm a diagnosis of primary ciliary dyskinesia (PCD) or to help make a diagnosis in people when other test results are unsure.

  • When testing finds two mutations, the results confirm that you have PCD. Testing is very reliable – you can be sure if mutations are found, the results are accurate.
  • When testing finds only one mutation, the results can't definitely confirm or rule out PCD for you. There are several possible reasons you could have one mutation:
    • You have another mutation in the gene but it wasn't found by testing.
    • You have mutations in another PCD gene for which testing is not yet available clinically.
    • You are truly just a carrier of PCD and there is another cause for your symptoms.
  • When testing doesn't find any mutations, the results don't rule out that you have PCD. There are several possible explanations for a normal test result:
    • You have mutations in the genes tested, but the testing that is currently available didn't find them.
    • You have mutations in another PCD gene for which testing is not yet available clinically.
    • You don't have PCD.

If testing finds only one or no mutations, you may want to pursue other types of diagnostic testing, if you haven't already had it done.

Carrier testing can be done in parents of a child with primary ciliary dyskinesia. If possible, the child should be tested first.

  • If mutations are found, then testing in the parents looks just for those gene changes. We would expect that the father would carry one of the mutations, and the mother would carry the other.
  • Once the mutations are confirmed in the parents, testing is available for future pregnancies if desired.

If testing the child with PCD is not possible, carrier testing can be done on the parents, but the results will be less clear.

  • If mutations are found, the parents are confirmed as carriers and testing is available for future pregnancies.
  • If the parents have normal results, it isn't clear whether they aren't carriers of PCD or whether the mutations simply weren't found by the testing.
    • Even with normal test results, parents of a child with PCD may have a 25% chance to have another child with PCD.
    • Testing would not be available for future pregnancies because the mutations have not been found.