Primary Ciliary Dyskinesia Symptoms

Babies born with primary ciliary dyskinesia (PCD) may have respiratory distress within the first day after birth, while other people may go through life without knowing that they have the disease.

PCD affects mainly the sinuses, ears, and lungs. One sign that you might have PCD is if you have chronic (ongoing) infections, such as a wet cough and constant nasal congestion, in one or more of these areas. You may often get sinus infections and middle ear infections.

Symptoms in the body include:

• Both men and women may have fertility problems, or difficulty having children.
• About half of all people who have PCD have Kartagener’s syndrome, a rare condition that includes situs inversus (internal organs in a mirror image of their normal positions).

Symptoms in the sinuses include:

• Chronic (long-term) nasal congestion
• Runny nose with mucus and pus discharge
• Chronic sinus infections
• Nasal polyps

Symptoms in the ears include:

• Chronic middle ear infections
• Hearing loss

Symptoms in the lungs include:

• Chronic cough
• Respiratory distress (breathing problems) in newborns
• Pneumonia that goes away and comes back often

Atelectasis

Atelectasis

(A-teh-LEK-tuh-sis):

A condition in which the airways and air sacs in the lung collapse or do not expand properly.

• Bronchiectasis

How serious are the symptoms?

The symptoms of PCD and how serious they are can vary from person to person. A person who has the disease may have serious sinus, ear, or lung infections. If the disease is mild, it may not show up until the teen or adult years.

Your symptoms may also vary over time. Sometimes you may have few symptoms. Other times, your symptoms may become more serious.

Some people who have PCD have breathing problems when they are 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 can also prevent or delay ongoing and long-term lung damage.

When to call a healthcare provider

Make sure to report new or worsening symptoms, such as increased coughing, to your provider (or your child’s provider) right away. This will allow them to find out whether you have an infection and what’s causing it. Your provider can then prescribe medicine to prevent the infection from worsening.

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What Is Primary Ciliary Dyskinesia?

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Diagnosis

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