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What Are the Signs and Symptoms of Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia (PCD) mainly affects the sinuses, ears, and lungs. One sign that you might have PCD is if you have chronic (ongoing) infections in one or more of these areas. Common signs, symptoms, and complications linked to PCD include the following:

  • Sinuses:
    • Chronic nasal congestion
    • Runny nose with mucus and pus discharge
    • Chronic sinus infections
  • Ears:
    • Chronic middle ear infections
    • Hearing loss
  • Lungs:
    • Respiratory distress (breathing problems) in newborns
    • Chronic cough
    • Recurrent pneumonia
    • Collapse of part or all of a lung

PCD also can cause fertility problems in men and women. "Fertility" refers to the ability to have children. In men, PCD can affect cilia-like structures that help sperm cells move. Because the sperm cells don't move well, men who have the disease usually are unable to father children.

Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.)

About half of all people who have PCD have Kartagener's syndrome. This syndrome involves three disorders: chronic sinusitis (si-nu-SI-tis), bronchiectasis (brong-ke-EK-tah-sis), and situs inversus.

Chronic sinusitis is a condition in which the sinuses are infected or inflamed. The sinuses are hollow air spaces around the nasal passages.

Bronchiectasis is a condition in which damage to the airways causes them to widen and become flabby and scarred.

Situs inversus is a condition in which the internal organs (for example, the heart, stomach, spleen, liver, and gallbladder) are in opposite positions from where they normally are.

Situs inversus can occur without PCD. In fact, only 25 percent of people who have the condition also have PCD. By itself, situs inversus may not affect your health. However, in PCD, it's a sign of Kartagener's syndrome.

Some people who have PCD have abnormally placed organs and congenital heart defects.

When Do Symptoms Occur?

The symptoms and severity of PCD vary from person to person. If you or your child has the disease, you may have serious sinus, ear, and/or lung infections. If the disease is mild, it may not show up until the teen or adult years.

The symptoms and severity of PCD also vary over time. Sometimes, you may have few symptoms. Other times, your symptoms may become more severe.

Some people who have PCD have breathing problems when they're born and need extra oxygen for several days. Afterward, airway infections are common.

Diagnosing PCD in children can be hard. This is because some PCD symptoms—such as ear infections, chronic cough, and runny nose—are common in children, even if they don't have PCD. Also, the disease may be confused with another condition, such as cystic fibrosis.

A correct and early diagnosis of PCD is very important. It will allow you or your child to get the proper treatment to keep your airways and lungs as healthy as possible. An early diagnosis and proper treatment also can prevent or delay ongoing and long-term lung damage.

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Primary Ciliary Dyskinesia Clinical Trials

Clinical trials are research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. To find clinical trials that are currently underway for Primary Ciliary Dyskinesia, visit www.clinicaltrials.gov.

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Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research.

 
June 01, 2011 Last Updated Icon

The NHLBI updates Health Topics articles on a biennial cycle based on a thorough review of research findings and new literature. The articles also are updated as needed if important new research is published. The date on each Health Topics article reflects when the content was originally posted or last revised.

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