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What Is Primary Ciliary Dyskinesia?

Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah).

Cilia move together in wave-like 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.

If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth.

Sperm cells have structures that are like cilia. In men who have PCD, these structures also may not work well. This can cause fertility problems. "Fertility" refers to the ability to have 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.)

Overview

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.

Generally, a child must inherit faulty genes from both parents to have PCD. These genes affect how cilia grow and function. 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.

No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease.

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

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 a condition called situs inversus (SI-tus in-VER-sus). This 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.

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 lung damage.

Outlook

Many people who have PCD have normal lifespans. However, about 25 percent of people who have the disease may develop respiratory failure, a life-threatening condition. A small number of people who have PCD need lung transplants.

Scientists continue to study the faulty genes that cause PCD. Further studies of the disease will likely lead to earlier diagnoses, better treatments, and improved outcomes.




Other Names for Primary Ciliary Dyskinesia

  • Acilia syndrome
  • Dyskinetic cilia syndrome
  • Immotile cilia syndrome



What Causes Primary Ciliary Dyskinesia?

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 function. Cilia are tiny, hair-like structures that line the airways.

The airways include your nose and linked air passages; mouth; larynx (LAR-ingks), or voice box; trachea (TRA-ke-ah), or windpipe; and tubes called bronchial tubes or bronchi, and their branches.

Cilia move mucus (a slimy substance) through your airways and toward your mouth to be coughed or sneezed out of your body. The mucus contains inhaled dust, bacteria, and other small particles.

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.

Primary Ciliary Dyskinesia

Figure A shows the organs that primary ciliary dyskinesia can affect. Figure B shows a cross-section of the trachea (windpipe). Figure C shows a closeup view of normal cilia lining the trachea. The cilia move together in wave-like motions to transport mucus toward the mouth. Figure D shows a closeup view of faulty cilia lining the trachea. The cilia are deformed and do not move together, causing a buildup of mucus.

Figure A shows the organs that primary ciliary dyskinesia can affect. Figure B shows a cross-section of the trachea (windpipe). Figure C shows a closeup view of normal cilia lining the trachea. The cilia move together in wave-like motions to transport mucus toward the mouth. Figure D shows a closeup view of faulty cilia lining the trachea. The cilia are deformed and do not move together, causing a buildup of mucus.

No single faulty gene causes all cases of PCD. Rather, many genes are associated with the disease.

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




Who Is at Risk for Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia (PCD) is a rare disease that affects both males and females. The disease also affects people from all racial and ethnic groups.

Some people who have PCD have breathing problems from the moment of birth. However, other people can go through all or most of their lives without knowing that they have the disease.




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.




How Is Primary Ciliary Dyskinesia Diagnosed?

Your doctor or your child's doctor will diagnose primary ciliary dyskinesia (PCD) based on signs and symptoms and test results.

If your primary care doctor thinks that you may have PCD or another lung disorder, he or she may refer you to a pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases and conditions.

Signs and Symptoms

Your doctor will look for signs and symptoms that point to PCD, such as:

  • Respiratory distress (breathing problems) at birth
  • Chronic sinus, middle ear, and/or lung infections
  • Situs inversus (internal organs in positions opposite of what is normal)

For more information, go to "What Are the Signs and Symptoms of Primary Ciliary Dyskinesia?"

Your doctor also may ask whether you have a family history of PCD. PCD is an inherited disease. "Inherited" means the disease is passed from parents to children through genes. A family history of PCD suggests an increased risk for the disease.

Diagnostic Tests

If the doctor thinks that you or your child might have PCD, he or she may recommend tests to confirm the diagnosis.

Genetic Testing

Researchers have found many gene defects 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).

Electron Microscopy

Doctors can use a special microscope, called an electron microscope, to look at samples of your airway cilia. This test can show whether your cilia are faulty.

An ear, nose, and throat (ENT) specialist or a pulmonologist (lung specialist) will take samples of your cilia. He or she will brush the inside of your nose or remove some cells from your airways.

The doctor will send the samples to a lab. There, a pathologist will look at them under an electron microscope. (A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope.)

Other Tests

Sometimes doctors use one or more of the following tests to help diagnose PCD. These tests are less complex than genetic testing and electron microscopy, and they can be done in a doctor's office.

However, these tests don't give a final diagnosis. Based on the test results, doctors may recommend the more complex tests.

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 amount of radiation attached to them. When you breathe out, your doctor will test how well your cilia can move the particles.

If you breathe out a smaller than normal number of particles, your cilia may not be working well. This could be a sign of PCD.

Nasal nitric oxide. 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. Doctors don't know why people who have PCD breathe out such low levels of nitric oxide.

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. ("Fertility" refers to the ability to have children.)

For this test, a sample of semen is checked under a microscope. Abnormal sperm may be a sign of PCD.

Tests for other conditions. Your doctor also might want to do tests to rule out diseases and disorders that have symptoms similar to those of PCD. For example, you may have tests to rule out cystic fibrosis or immune disorders.




How Is Primary Ciliary Dyskinesia Treated?

Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have.

The main goals of treating PCD are to:

  • Control and treat lung, sinus, and ear infections
  • Remove trapped mucus from the lungs and airways

Specialists Involved

Many doctors may help care for someone who has PCD. For example, a neonatologist may suspect PCD or another lung disorder if a newborn has breathing problems at birth. A neonatologist is a doctor who specializes in treating newborns.

A pediatrician may suspect PCD if a child has chronic (ongoing) sinus, ear, and/or lung infections. A pediatrician is a doctor who specializes in treating children. This type of doctor provides children with ongoing care from an early age and treats conditions such as ear infections and breathing problems.

An otolaryngologist also may help diagnose and treat PCD. This type of doctor treats ear, nose, and throat disorders and also is called an ear, nose, and throat (ENT) specialist. If a child has chronic sinus or ear infections, an ENT specialist may be involved in the child's care.

A pulmonologist may help diagnose or treat lung problems related to PCD. This type of doctor specializes in diagnosing and treating lung diseases and conditions. Most people who have PCD have lung problems at some point in their lives.

A pathologist is a doctor who specializes in identifying diseases by studying cells and tissues under a microscope. This type of doctor may help diagnose PCD by looking at cilia under a microscope.

A pathologist also may look at mucus samples to see what types of bacteria are causing infections. This information can help your doctor decide which treatments to prescribe.

Treatments for Breathing and Lung Problems

Standard treatments for breathing and lung problems in people who have PCD 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 doctor also may advise you to avoid medicines that suppress coughing.

Chest Physical Therapy

CPT also is 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 and force help drain the mucus from your lungs.

Some people find CPT 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. The airwaves force the mucus that's deep in your lungs toward your upper airways so you can cough it up.
  • A small hand-held device that you breathe out through. The device causes vibrations that 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 doctor about what types and amounts of exercise are safe for you or your child.

Medicines

If you have PCD, your doctor 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. Your doctor may prescribe oral or intravenous (IV) antibiotics.

Oral antibiotics often are used to treat mild lung infections. For severe or hard-to-treat infections, you may be given IV antibiotics through a tube inserted into a vein.

To help decide which antibiotics you need, your doctor may send mucus samples to a pathologist. The pathologist will try to find out which bacteria are causing the infection.

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 also may take bronchodilators before inhaling other medicines into your lungs.

Anti-inflammatory medicines can help reduce swelling in your airways that's caused by ongoing infections. These medicines may be inhaled or oral.

Treatments for Sinus and Ear Infections

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

Tympanostomy (tim-pan-OS-toe-me) 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 bronchiectasis severely affects part of your lung, surgery may be used to remove that area of lung.

In very rare cases, if other treatments haven't worked, lung transplant may be an option for severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor.




Living With Primary Ciliary Dyskinesia

If you or your child has primary ciliary dyskinesia (PCD), try to learn as much as you can about the disease. Work closely with your doctors or your child's doctors to learn how to manage PCD.

Ongoing Care

You'll need ongoing care to check your lung function and your general health. Ask your doctor how often you should schedule followup visits.

Your doctor will likely recommend periodic chest x rays and lung function tests. He or she will use the test results and information about your symptoms to plan your treatment.

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

Also, certain vaccines can lower your risk for some infections. Talk with your doctor about which vaccines may benefit you.

If your child has PCD, encourage him or her to learn about the disease and take an active role in his or her treatment.

Healthy Lifestyle

Between medical checkups, you can practice good self-care and follow a healthy lifestyle. An important part of a healthy lifestyle is following a healthy diet.

A healthy diet includes a variety of fruits, vegetables, and whole grains. It also includes lean meats, poultry, fish, beans, and fat-free or low-fat milk or milk products. A healthy diet is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugar.

For more information about following a healthy diet, go to the National Heart, Lung, and Blood Institute's (NHLBI's) Aim for a Healthy Weight Web site, "Your Guide to a Healthy Heart," and "Your Guide to Lowering Your Blood Pressure With DASH." All of these resources include general information about healthy eating.

Another important part of a healthy lifestyle is to quit smoking or not start smoking. Talk to your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.

If you have a child who has PCD, avoid smoking anywhere your child spends time, including the home and car. Encourage your child to never start smoking.

For more information about how to quit smoking, go to the Health Topics Smoking and Your Heart article and the NHLBI's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include general information about how to quit smoking.

Other steps you can take to follow a healthy lifestyle include:

  • Washing your hands often to lower your risk of infection.
  • Being physically active and drinking lots of fluids. Talk with your doctor about what types and amounts of activity are safe for you or your child.
  • Doing chest physical therapy (as your doctor recommends).
  • Avoiding medicines that suppress coughing. (Coughing helps clear mucus from your airways.)

Other Concerns

Adults who have PCD can expect to have normal sex lives. However, men and women who have the disease may have fertility problems. ("Fertility" refers to the ability to have children.) Fertility treatments may help some people who have PCD.

If you have PCD and fertility concerns, talk with your doctor. He or she can advise you about available treatment options.

People who have PCD should still have protected sex to avoid sexually transmitted diseases.

Emotional Issues and Support

Living with PCD may cause fear, anxiety, depression, and stress. Talk about how you feel with your health care team. Talking to a professional counselor also can help. If you're very depressed, your doctor may recommend medicines or other treatments that can improve your quality of life.

Support from family and friends also can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.

Genetic Counseling

You may want to consider genetic counseling if you have:

  • A family history of PCD and you're planning to have children
  • A child who has PCD and are planning to have more children

A genetic counselor can explain the risk (likelihood) of having children who have the disease. He or she also can help explain the choices that are available.

You can find information about genetic counseling from health departments, neighborhood health centers, and medical centers.




Clinical Trials

The National Heart, Lung, and Blood Institute (NHLBI) is strongly committed to supporting research aimed at preventing and treating heart, lung, and blood diseases and conditions and sleep disorders.

NHLBI-supported research has led to many advances in medical knowledge and care. For example, this research has uncovered some of the causes of chronic (ongoing) lung diseases, as well as ways to prevent or treat these diseases.

Many more questions remain about chronic lung diseases, including primary ciliary dyskinesia (PCD). The NHLBI continues to support research aimed at learning more about these diseases. For example, the NHLBI currently is supporting a study to explore how PCD starts and changes over time and how it affects lung function.

Research often depends on the willingness of volunteers to take part in clinical trials. Clinical trials test new ways to prevent, diagnose, or treat various diseases and conditions.

For example, new treatments for a disease or condition (such as medicines, medical devices, surgeries, or procedures) are tested in volunteers who have the illness. Testing shows whether a treatment is safe and effective in humans before it is made available for widespread use.

By taking part in a clinical trial, you can gain access to new treatments before they're widely available. You also will have the support of a team of health care providers, who will likely monitor your health closely. Even if you don't directly benefit from the results of a clinical trial, the information gathered can help others and add to scientific knowledge.

If you volunteer for a clinical trial, the research will be explained to you in detail. You'll learn about treatments and tests you may receive, and the benefits and risks they may pose. You'll also be given a chance to ask questions about the research. This process is called informed consent.

If you agree to take part in the trial, you'll be asked to sign an informed consent form. This form is not a contract. You have the right to withdraw from a study at any time, for any reason. Also, you have the right to learn about new risks or findings that emerge during the trial.

For more information about clinical trials related to PCD, talk with your doctor. You also can visit the following Web sites to learn more about clinical research and to search for clinical trials:

For more information about clinical trials for children, visit the NHLBI's Children and Clinical Studies Web page.




Links to Other Information About Primary Ciliary Dyskinesia

NHLBI Resources

Non-NHLBI Resources

Clinical Trials

 
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.