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Primary Ciliary Dyskinesia (PCD) Symptoms, Causes and Risk Factors

PCD may first be diagnosed as asthma, chronic bronchitis, smoking-related COPD, or just bronchiectasis of unknown cause. Since PCD is an inherited condition, it is important to consider your family history of lung, sinus or ear disease as a possible indication of PCD, or a family history of reversed organs.

What Are the Symptoms of PCD?

Typically, symptoms occur very early in life, either shortly after birth ("neonatal" pneumonia, for example), or in early childhood. Symptoms persist throughout life.

Symptoms of PCD can be classified as symptoms involving the ears, sinuses, and lung, and symptoms involving organs outside the respiratory tract.

The most common symptoms of PCD respiratory disease are:

  • A "wet" cough from birth or infancy, with or without mucus production that lasts for a long time
  • Shortness of breath
  • Wheezing or a whistling sound while you breathe
  • Recurring chest colds
  • Asthma that does not respond to standard therapy
  • Middle ear infections
  • Chronic nose infections, thick nasal drainage, or sinusitis

Symptoms of lung disease usually may occur in newborns, very young children or young adults, but it is not uncommon for the diagnosis to be delayed until adulthood. Ear symptoms may be particularly difficult in young children until the ear drainage tubes grow with age.

What Causes PCD?

PCD is an inherited disorder. PCD is caused by having two abnormal copies of the PCD gene due to inheriting an abnormal copy from both parents. You cannot catch or acquire PCD. It can occur in people who have no known family history of the disease because people with one abnormal PCD gene (called "carriers") are usually healthy. When a person has two abnormal copies of the gene, they do not make one of a number of the proteins that allow cilia to beat normally. It is important to know that not everyone who inherits PCD will have the same symptoms or severity, or have situs inversus (reversed organs). In fact, only half of people with PCD have situs inversus. Some gene mutations are more common than others, and one's ethnic background may influence what gene mutations occur in a given patient or family. Researchers are working to learn more about what causes PCD. If a patient, family, or clinician wish to know about gene testing for PCD, it is best to contact a specialized center for the latest news on how to get that done.

What Are Risk Factors?

  • Genes: The genetic status of a person's parents determines whether they are at risk for PCD. A person is only at risk if both parents have one or more PCD gene abnormalities. However, because this is often not known, anyone with significant recurrent lung infections or bronchiectasis of unknown cause with organ-sided issues should consider PCD testing.
  • Early diagnosis: Early diagnosis of PCD is important because early treatment is considered essential to help slow the progression of PCD lung disease.
  • Environment and Lifestyle: As with most diseases, it's not all about genes. There are other factors that are involved that may influence the progress of the disease, especially environmental influences. These include:
    • Not smoking
    • Avoiding direct contact with people who have a cold or chest infection
    • Receiving appropriate vaccines like the flu shot
    • Eating well and staying active
    • Practicing good "airway clearance"
  • Age: The course of PCD over time is unpredictable, as some patients do very well for a full lifetime, while others have serious lung disease by the time they are young adults.

When to See Your Doctor

If you have a family history of PCD, have been diagnosed with bronchiectasis, or situs inversus, or experience any of the above symptoms, or other symptoms, you should consult your doctor and think about seeing a lung specialist.

    This content was developed in partnership with the CHEST Foundation, the philanthropic arm of the American College of Chest Physicians.

    Last updated April 5, 2018.

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