Primary Ciliary Dyskinesia

What Is Primary Ciliary Dyskinesia?

Primary Ciliary Dyskinesia

Primary ciliary dyskinesia, or PCD, is a rare disease that affects the tiny, hairlike structures (cilia) that line the airways. It affects approximately 1 in every 10,000 to 30,000 people.

Cilia move together in wavelike motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles.

Some people are born with problems with the cilia that prevent them from moving the mucus out of the airways. This can cause mucus to build up and lead to breathing problems and infections. PCD affects mainly the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth.

PCD is an inherited disease. “Inherited” means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved.

The symptoms and severity of PCD vary from person to person. You may have only mild symptoms at first, and they may get worse over time.

A correct and early diagnosis of PCD is very important. Currently, there is no treatment to fix the cilia, but an early diagnosis can allow you or your child to treat sinus and lung infections and take other steps needed to keep the airways and lungs as healthy as possible. This can also help prevent or delay lung damage.

Many people who have PCD generally live an active life and have a normal lifespan. However, PCD can lead to serious problems. If you have PCD, you are at risk of repeated respiratory infections and pneumonia. This can lead to bronchiectasis. Men who have PCD are usually unable to have children, and women who have PCD may have problems getting pregnant. Sometimes PCD can cause respiratory failure.

Causes

Primary ciliary dyskinesia (PCD) is a rare, inherited disease. “Inherited” means the disease is passed from parents to children through genes. With PCD, this process is very complex. Researchers are still learning how the disease is inherited and which genes are involved.

Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and work. Cilia are tiny, hairlike structures that line the airways.

Faulty genes may cause the cilia to be the wrong size or shape or move in the wrong way. Sometimes the cilia are missing altogether. If the cilia don’t work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders.

If a child inherits a faulty gene (or genes) from only one parent, the child may be a “PCD carrier.” Carriers usually have no symptoms of PCD. However, carriers can pass faulty PCD genes on to their children.

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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
  • 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.

Diagnosis

Genetic testing

Researchers have found many genes associated with PCD. Genetic testing can show whether you have faulty genes linked to the disease.

Genetic testing is done using a blood sample. The sample is taken from a vein in your body using a needle. The blood sample is checked at a special genetic testing laboratory (lab).

Couples who are planning to have children and know that they are at risk of having a child with PCD may want to meet with a genetic counselor. A genetic counselor can answer questions about the risk and explain the choices that are available.

Electron microscopy

Your healthcare provider can use a special microscope, called an electron microscope, to look at samples of your airway cilia. This test can show whether there are any problems with the structure of your cilia or how they are working.

An ear, nose, and throat (ENT) specialist or a pulmonologist (a doctor who specializes in treating conditions affecting the respiratory system, including the lungs) will take samples of your cilia. The provider will brush the inside of your nose to remove some cells from your airways. However, this test doesn’t give a final diagnosis.

Other tests

Sometimes healthcare providers use one or more of the following tests to help diagnose PCD. Some of these tests are less complex than genetic testing and electron microscopy, and they can be done in a provider’s office.

Based on your test results, your provider may recommend a more complex test.

  • Ear, nose and throat tests: Because ear and sinus symptoms are common in PCD, tests focused on those areas can determine if you have hearing loss or loss of your sense of smell. Exams could include pressure testing to check the eardrum for fluid buildup.
  • Lung function tests: These are a group of tests that evaluate how well the lungs work by measuring lung volume, rates of flow, and gas exchange. Lung function may be lower in people living with PCD than in those not living with the disease.
  • Nasal nitric oxide measurement: This test measures the level of nitric oxide (a gas) when you breathe out. In people who have PCD, the level of nitric oxide is very low compared with normal levels. The reason for this is currently unknown.
  • Video microscopy: For this test, a pulmonologist brushes the inside of your nose to get a sample of cilia. Then he or she looks at the cilia under a microscope to see how they move. Abnormal movement of the cilia may be a sign of PCD.
  • Radiolabeled particles: For this test, you breathe in tiny particles that have a small, safe amount of radiation attached to them. Your provider will test how well your cilia can move the particles. If your lungs remove the particles more slowly than normal, your cilia may not be working well. This could be a sign of PCD.
  • Semen analysis: This test is used for adult men. In men, PCD can affect cilia-like structures that help sperm cells move. As a result, men who have PCD may have fertility problems. For this test, a sample of semen is checked under a microscope. Sperm that don’t look normal or a low sperm count may be signs of PCD.
  • Chest computerized tomography (CT) or other imaging: This test checks for structural changes in the lung as a result of chronic infections. A thorough physical exam, followed by an X-ray of the chest and abdomen and echocardiography, will also identify most cases of situs inversus.
Treatments for breathing and lung problems

Standard treatments for breathing and lung problems are chest physical therapy (CPT), exercise, and medicines.

One of the main goals of these treatments is to get you to cough. Coughing clears mucus from the airways, which is important for people who have PCD. For this reason, your provider may also advise you to avoid medicines that suppress coughing.

Chest physical therapy

CPT is also called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up.

You might sit down or lie on your stomach with your head down while you do CPT. Gravity can help drain the mucus from your lungs.

Some people who perform CPT find it hard or uncomfortable to do. Several devices have been made to help with CPT, such as:

  • An electric chest clapper, known as a mechanical percussor
  • An inflatable therapy vest that uses high-frequency airwaves that forces the mucus deep in your lungs toward your upper airways so you can cough it up
  • A small handheld breathing device that causes vibrations to dislodge the mucus
  • A mask that creates vibrations to help break the mucus loose from your airway walls

Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways.

Exercise

Aerobic exercise that makes you breathe harder helps loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.

Talk with your healthcare provider about what types and amounts of exercise are safe for you or your child.

Medicines

If you have PCD, your provider may prescribe antibiotics, bronchodilators, or anti-inflammatory medicines. These medicines help treat lung infections, open up the airways, and reduce swelling.

  • Antibiotics are the main treatment to prevent or treat lung infections. Oral antibiotics are often used to treat mild lung infections. For serious or hard-to-treat infections, you may be given intravenous (IV) antibiotics through a tube inserted into a vein. To help decide which antibiotics you need, your provider may send mucus samples to a pathologist. The pathologist will try to find out which bacteria are causing the infection. Side effects of antibiotics depend on which antibiotic is used but may include diarrhea; problems with your hearing, balance, kidneys; or low white blood cell counts.
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  • Bronchodilators help open the airways by relaxing the muscles around them. You inhale these medicines. Often, they’re taken just before CPT to help clear mucus from your lungs. You may also take bronchodilators before inhaling other medicines into your lungs. Side effects can include trembling in the hands, headache, dizziness, and nausea.
  • Anti-inflammatory medicines can help reduce swelling in your airways that’s caused by ongoing infections. These medicines may be inhaled or taken by mouth. Side effects can include mainly gastrointestinal symptoms, such as abdominal pain, nausea, vomiting, and diarrhea.
Treatments for sinus and ear infections

To treat infections, your healthcare provider may recommend saline nasal washes and anti-inflammatory nasal sprays. If these treatments aren’t enough, you may need medicines, such as antibiotics. If antibiotics don’t work, surgery may be an option.

Tympanostomy is a procedure in which small tubes are inserted into the eardrums to help drain mucus from the ears. This procedure may help children who have hearing problems caused by PCD.

Nasal or sinus surgery may help drain the sinuses and provide short-term relief of symptoms. However, the long-term benefits of this treatment are unclear.

Treatments for advanced lung disease

People who have PCD may develop a serious lung condition called bronchiectasis. This condition often is treated with medicines, hydration (drinking plenty of fluids), and CPT. If you have serious lung damage from bronchiectasis, you may need surgery to remove part of the lung.

Rarely, and when other treatments haven’t worked, lung transplant may be an option for serious lung disease. A lung transplant is surgery to remove the damaged lung and replace it with a healthy lung from a deceased donor.

Source: https://www.nhlbi.nih.gov/health/primary-ciliary-dyskinesia

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