Primary Ciliary Dyskinesia

What is primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) affects your respiratory system and is a rare disorder. It’s due to issues with cilia, microscopic hair-like organs. Healthy cilia use wave-like motions to move cells and other substances within your body.

With primary ciliary dyskinesia, cilia may:

• Be the wrong size.
• Have an abnormal shape.
• Be missing.
• Move in an uncoordinated manner.
• Not move.

What do cilia do?

Cilia line tissue in the respiratory system and other areas. Here, they help eliminate germs, waste and substances, like dust. They also play a role in the placement of developing organs in a fetis.

How can nonfunctioning cilia make me sick?

They can cause health issues beginning at birth or later in life, such as:

• Abnormal organ placement: The heart, lungs or spleen may be facing the wrong direction. They may also be on the wrong side of your body.
• Chronic, severe respiratory disease: Nonfunctioning cilia make it challenging to clear mucus. Instead, it builds up in your lungs and other passageways, causing infections.
• Fertility issues: Men with PCD are infertile. Women may experience serious pregnancy complications, such as an ectopic pregnancy.

What causes PCD?

Primary ciliary dyskinesia is passed down in families through gene abnormalities (mutations). There are dozens of mutations that can cause the disease.

What are the symptoms of primary ciliary dyskinesia?

Symptoms are often present at birth and worsen over time.

PCD symptoms at birth

• Congenital heart disease.
• Cyst-like growths on organs, including the kidneys and pancreas.
• Difficulty breathing (respiratory distress).
• Heterotaxia, organs that are out of place, missing or not fully developed.
• Humoral (antibody) deficiency, which can contribute to lung and sinus infections.
• Lungs that cannot inflate properly (atelectasis).
• Nasal congestion.
• Situs inversus, organs that are a mirror image of where they should be.
• Wet cough that does not go away.

Ongoing primary ciliary dyskinesia symptoms

• Chronic cough.
• Chronic sinusitis.
• Ear infections.
• Excess mucus and phlegm.
• Infertility.
• Fluid buildup in the brain (hydrocephalus).
• Nasal polyps.
• Severe pneumonia.
• Upper respiratory infections.

How is primary ciliary dyskinesia diagnosed?

There is no single test that can confirm a PCD diagnosis. Evaluations include:

• Physical exam to determine whether medical history and symptoms are consistent with primary ciliary dyskinesia.
• Biopsy of tissue that contains cilia. Healthcare providers take a tissue sample from the nose or lungs and examine it under a microscope.
• Genetic testing to check for mutations associated with primary ciliary dyskinesia. The majority but not all people with PCD have one of these mutations.

Other tests that may indicate a primary ciliary dyskinesia diagnosis include:

• Exhaled nasal nitric oxide: A special device measures nitric oxide levels, a gas that’s present when you exhale. People with PCD have abnormally low levels.
• Pulmonary function tests: These tests evaluate how well your lungs work.
• Video microscopy: A healthcare provider views a sample of cilia through a microscope equipped with a high-powered video camera. Viewing video output in slow-motion enables healthcare providers to test cilia movement.

What is primary ciliary dyskinesia treatment like?

There is no cure for PCD. But treatment can slow disease progression.

Therapies that help you eliminate mucus and fluids include:

• Airway clearance: A special machine loosens mucus. There are also special coughing techniques.
• Chest physical therapy: Some people wear a vest-like device that taps on their chest.
• Ear tubes: Surgeons implant small tubes in the eardrums. They make it easier to clear fluid from the middle ear, lowering the likelihood of buildups.

Care may also include medications for infections and inflammation:

• Antibiotics: These medications help your body fight infections. In severe cases, you may receive antibiotics through a vein in your arm (intravenously).
• Azithromycin: This medication helps treat the inflammation in your lung. You take it on a daily basis.
• Bronchodilators: Medications like albuterol make it easier to breathe.
• Corticosteroids: These medications lessen inflammation by quieting chemical reactions in your body.
• Mucus thinners: Medications you inhale to thin mucus in the airways.

Will I need other primary ciliary dyskinesia treatments?

Surgery may be necessary to treat abnormal organ placement. Care may include repairing abnormal structures shortly after birth. Additional procedures may be needed to prevent or treat complications later in life.

What can I do to prevent primary ciliary dyskinesia?

The condition is inherited, so there is nothing you can do to prevent it. If you are thinking of starting a family and a close relative has PCD, you may wish to consider genetic testing and counseling. These services help you learn the likelihood of having a child with the disease.

What is the life expectancy of people with primary ciliary dyskinesia?

Many people live a long life, even into older adulthood.

What is the prognosis for people with primary ciliary dyskinesia?

The prognosis varies. Some people are sick at birth and remain so throughout their lives. Other people feel healthy between periods of illness that may sometimes be severe.

What are the potential complications of PCD?

Ongoing infections from primary ciliary dyskinesia can scar organ tissue, leading to complications. These include:

• Hearing loss.
• Bronchiectasis.
• Respiratory failure.

What is important to know about living with PCD?

Steps you can take to feel your best include:

• Exercise: Moderate physical activity makes you breathe harder, loosening mucus and improving physical strength.
• Emotional support: Living with a chronic condition such as PCD can bring challenges that are difficult to cope with. A mental health professional can provide you with the support that makes life a little less stressful.
• Monitoring: Healthcare providers assess whether treatments are working or if symptoms are worsening. Visits may include pulmonary function testing or a chest X-ray.

A note from Cleveland Clinic

Primary ciliary dyskinesia is a rare, inherited disorder affecting the respiratory system and organ placement. Symptoms worsen, sometimes causing respiratory failure and other complications. But there are steps you can take to feel your best. Airway clearance techniques and medications lower your infection risk. Emotional support can ease some of the stress of living with this chronic disease.