Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare disorder that involves abnormal cilia. These are microscopic, hairlike structures that line your lungs and other areas. Here, they help move germs, waste and dust. Then, you can cough or sneeze these things out.

Healthy cilia use wavelike motions to move cells and other substances within your body. With primary ciliary dyskinesia, cilia may:

• Be the wrong size
• Have an abnormal shape or structure
• Be missing
• Move in an abnormal way
• Not move

With cilia that don’t work right, it’s challenging to clear mucus. This can make you cough and gag. Mucus builds up in your lungs and other passageways, causing infections. People with PCD can get infections in their lungs, but also their ears and sinuses, again and again. These respiratory diseases can be severe.

Cilia also play a role in the development of organs in a fetus. Some people with PCD have heterotaxy, or organs that are out of place, missing or not fully developed. With Kartagener syndrome (a type of PCD), your liver, heart, intestines and spleen are on the wrong side of your body (situs inversus). This happens to 1 out of 2 people with PCD.

What are the symptoms of PCD?

PCD symptoms at birth may include:

• Difficulty breathing (respiratory distress) with fast breathing or low oxygen levels
• Lungs that can’t inflate properly (atelectasis)
• Nasal congestion
• Wet cough that doesn’t go away

Primary ciliary dyskinesia symptoms are often present at birth and worsen over time. Babies born with PCD may also have congenital heart disease.

Some people may not have symptoms until they’re teens or adults.

Once symptoms start, they’re ongoing. Primary ciliary dyskinesia symptoms may include:

• Chronic cough
• Long-term sinus infection (chronic sinusitis)
• Ear infections
• Excess mucus and phlegm
• Fluid buildup in the brain (hydrocephalus)
• Nasal polyps
• Severe pneumonia
• Upper respiratory infections

PCD causes

Families pass down primary ciliary dyskinesia through gene changes (variations). Variants in more than 50 genes can cause the disease. But usually, you need to get the variant in the same gene from both parents to inherit PCD.

Complications of this condition

Ongoing infections from primary ciliary dyskinesia can scar organ tissue. This can lead to complications like:

• Hearing loss from recurrent ear infections
• Chronic sinusitis
• Bronchiectasis
• Respiratory failure

PCD also affects cilia in other parts of your body. Males with PCD can be infertile. Females may have serious pregnancy complications, like an ectopic pregnancy.

How doctors diagnose this condition

The sooner you get a diagnosis for your child, the better. Early treatment is best to prevent lung damage. Tests may include:

• Physical exam: A provider can use this to find out if your child’s medical history and symptoms could point to primary ciliary dyskinesia.
• Biopsy of tissue that contains cilia: Healthcare providers take a tissue sample from your child’s nose or lungs and look at it under a microscope.
• Genetic testing: This checks for variations linked to primary ciliary dyskinesia. Most, but not all, people with PCD have one of these variations.
• Nasal nitric oxide measurement by blowing air into a special tube: People with PCD have abnormally low levels in the air they breathe out.
• Pulmonary function tests: These evaluate how well your child’s lungs work.
• Video microscopy: This allows a provider to watch and test cilia movement. Providers use a microscope with a high-powered video camera to view a cilia sample in slow motion.
• Imaging like a chest CT or chest X-ray: These check for changes in your child’s lung or organs out of place.

How is PCD treated?

Treatments can help PCD disease progress more slowly. But they aren’t cures. Treatment includes therapies and medications. Rarely, someone with severe PCD may need a device to help them breathe or a lung transplant.

Therapies

Therapies that help your child get rid of mucus and fluids include:

• Airway clearance: This may involve loosening or suctioning mucus. You can also use special coughing techniques.
• Vigorous cardio exercise: This helps clear airway mucus.
• Chest physical therapy: Some people wear vest-like devices that tap on their chests. You can also use a special mask.
• Ear tubes: Surgeons implant small tubes in your child’s eardrums. Tubes make it easier to clear fluid from the middle ear, giving you a lower chance of buildups.

Medicines

Care may also include medicines like:

• Antibiotics: These help your child’s body fight infections. In severe cases, they may receive antibiotics through an IV in their arm.
• Azithromycin: This helps treat the inflammation in your child’s lung.
• Bronchodilators: Drugs like albuterol make it easier to breathe.
• Corticosteroids: These lessen inflammation by quieting chemical reactions in your child’s body.
• Mucus thinners: You inhale these to thin mucus in your airways.

You may need other treatments, like surgery to treat abnormal organ placement. A surgeon may repair abnormal structures shortly after birth. Other procedures can prevent or treat complications later in life.

When should I see my healthcare provider?

Contact your healthcare provider if your child gets new or worse symptoms from PCD. They’ll have regular visits with their provider. This gives them a chance to check whether treatments are working or if symptoms are getting worse. Visits may include pulmonary function testing or a chest X-ray.

Questions to ask a provider may include:

• What’s the best treatment for my child’s case?
• Can you teach my child how to clear their airways?
• How often does my child need appointments?

What can I expect if I have PCD?

One person with PCD disease can have very different symptoms from someone else. They also may not be as severe. The prognosis (outlook) varies significantly. Some people are sick at birth and remain so throughout their lives. Other people feel healthy between periods of illness that can be severe at times. It’s common to have multiple hospital stays.

The life expectancy of a person with PCD varies, but many people will live a normal lifespan.

Is there anything I can do to feel better?

Your provider may recommend the following to help you feel better:

• Moving your body with moderate physical activity: This makes you breathe harder, loosening mucus and improving physical strength.
• Talking with a counselor: This can provide your family with support while living with a chronic condition like primary ciliary dyskinesia.

Can primary ciliary dyskinesia be prevented?

You can’t prevent an inherited condition that’s in your genes. But if you want to start a family and a close relative has PCD, you may consider genetic testing and counseling. These services help you learn about your chances of having a child with the disease.