Primary Ciliary Dyskinesia Diagnosis and Treatment

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects approximately 1 in 16,000 people. Cilia are hair-like structures that line certain parts of the body like the eustachian tube and trachea. Cilia serve an important function of moving mucus and other foreign material away from organs to be removed from the body. In PCD, the cilia no longer function normally which causes a delay in the removal of debris increasing the risk for an infection. In PCD the organs of the abdomen and chest are in their normal position.

Cilia lining the airways diagram


There are also subtypes of PCD like Kartagener's syndrome (situs inversus totalis), which has PCD but also has hallmark features of having organs on the opposite side of the body. For example, instead of the spleen being on the left side of the body, it is on the right side of the body. Other organs commonly affected by Kartagener's syndrome include the: heart, liver, and intestines. Kartagener's syndrome is even rarer with an incidence of about 1 in 32,000 people.

Risk Factors

Primary ciliary dyskinesia is not a contagious disorder. You can only inherit PCD when you are born if both your parents either have this disorder or are carriers of the disorder. It is more common to be a carrier of PCD because it has an autosomal recessive pattern of inheritance. This means that if one parent gives you the gene responsible for PCD but your other parent does not give you the gene, you will not inherit PCD but be known as a carrier.

There are several gene disorders that can cause PCD however you cannot currently diagnose carriers of primary ciliary dyskinesia. Any gene that affects proteins of the cilia can potentially lead to PCD. Mutations to the proteins associated with the cilia can decrease, increase, or stop the wave-like motion associated with normal ciliary function. Changes to the function of cilia can cause the following symptoms related to primary ciliary dyskinesia:


Your healthcare provider may not automatically look for primary ciliary dyskinesia, as the symptoms can be related to many disorders that can be seen in both children and adults. When situs inversus totalis (organs located abnormally on the opposite sides of the body) is noticed, the diagnosis can be easy. However, when organ placement is normal, your healthcare provider will need to perform additional tests. Genetic testing is one of the main methods that is used to diagnose PCD, however, there are two common methods used to visually assess for problems with your cilia: electron & video microscopy. The difference between the two tests is the type of microscope used. Both tests require your healthcare provider to take a sample from either your nasal cavity or airway to analyze under a microscope.

Radiation attached to tiny particles, also known as radiolabeled particles, can be inhaled. Your healthcare provider will then measure how many of the particles return during exhalation. When fewer than expected particles return, ciliary problems can be suspected. Your healthcare provider may also have you inhale nitric oxide. This test is not well understood, however when you exhale less than normal results, PCD may be suspected.

Normal functioning cilia is also necessary for a healthy reproductive system. Due to the level of dysfunction of cilia in the reproductive tract, semen analysis can also prove helpful in diagnosing PCD in adults. The sperm sample is then analyzed under a microscope.

The gold-standard for testing is electron microscopy. This clearly can define whether or not there are structural and functional abnormalities with the cilia. Your ENT can take a sample from either your nose or your airways to obtain a sample for this test. Genetic testing can be diagnostic, however, only approximately 60 percent of cases of PCD have identifiable genetic coding identified.


There is no cure for primary ciliary dyskinesia. Treatment is related to managing symptoms and attempting to prevent infection. In order to help prevent ear infections, your ENT is likely to place ear tubes to allow for your ears to drain into your ear canal, since transport through the eustachian tube is impaired. Other treatments may include frequent nasal washes and anti-inflammatory nasal sprays.

Treatment for breathing problems focuses on improving your ability to cough. Since impaired cilia decrease your ability to eliminate mucus in the airways, coughing helps to assist your body in moving the mucus out of your airway. In order to achieve this, you may be prescribed:

  • Chest physiotherapy: mechanical devices or hand techniques to encourage coughing
  • Exercise: cardio exercising causes you to breath heavier which helps to mobilize secretions in the airway
  • Medications: bronchodilators and anti-inflammatories help to reduce swelling and to open up the airways to help you cough up or move any mucus.

In worst-case scenarios, PCD affecting the lungs can lead to bronchiectasis. Severe cases will not be able to be treated and a lung transplant will be necessary. A lung transplant will cure PCD in the lungs. However, you will have to deal with all the necessary post-transplant treatments and restrictions. This is a great treatment when necessary, but is not a good first-line method for treating PCD.

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  • Kliegman, Stanton, St. Geme & Schor. (2015). Nelson Textbook of Pediatrics. 20th ed. Primary Ciliary Dyskinesia (Immotile Cilia Syndrome Kartagener Syndrome).

  • National Heart, Lung, and Blood Institute. (2011). What Is Primary Ciliary Dyskinesia.

  • National Organization of Rare Disorders. (2015). Primary Ciliary Dyskinesia.

By Kristin Hayes, RN
Kristin Hayes, RN, is a registered nurse specializing in ear, nose, and throat disorders for both adults and children.