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.

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.

In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.

Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.

Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.

Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.

Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.

Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.

Cilia, tiny hair-like organelles that project from cell surfaces, have different roles within the body, including movement of cells and fluid, function of the senses (vision, hearing taste, smell, and touch), and sexual reproduction. Cilia are located in many tissues throughout the body. Doctors and scientists are just now beginning to understand how defects in cilia can cause disease and dysfunction. Defects in cilia are associated with a range of human diseases which have come to be called "ciliopathies".

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.

Normal Function

The DNAH5 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.

Within the core of cilia (the axoneme), dynein complexes are part of structures known as inner dynein arms (IDAs) or outer dynein arms (ODAs) depending on their location. Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. IDAs and ODAs have different combinations of protein components (subunits) that are classified by weight as heavy, intermediate, or light chains. The DNAH5 gene provides instructions for making heavy chain 5, which is found in ODAs. Other subunits are produced from different genes.

Health Conditions Related to Genetic Changes

Primary ciliary dyskinesia

More than 80 mutations in the DNAH5 gene have been found to cause primary ciliary dyskinesia, which is a condition characterized by respiratory tract infections, abnormal organ placement, and an inability to have children (infertility). DNAH5 gene mutations result in an absent or abnormal heavy chain 5. Without a normal version of this subunit, the ODAs cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force needed to bend back and forth. Defective cilia lead to the features of primary ciliary dyskinesia.

Heterotaxy syndrome

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Other Names for This Gene

• axonemal beta dynein heavy chain 5
• CILD3
• ciliary dynein heavy chain 5
• DNAHC5
• DYH5_HUMAN
• dynein heavy chain 5, axonemal
• dynein, axonemal, heavy chain 5
• dynein, axonemal, heavy polypeptide 5
• FLJ46759
• HL1
• KIAA1603

Genomic Location

Normal Function

The DNAI1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.

Within the core of cilia (the axoneme), dynein complexes are part of structures known as inner dynein arms (IDAs) and outer dynein arms (ODAs) depending on their location. Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. IDAs and ODAs have different combinations of protein components (subunits) that are classified by weight as heavy, intermediate, or light chains. The DNAI1 gene provides instructions for making intermediate chain 1, which is found in ODAs. Other subunits are produced from different genes.

Health Conditions Related to Genetic Changes

Primary ciliary dyskinesia

At least 21 mutations in the DNAI1 gene have been found to cause primary ciliary dyskinesia, which is a condition characterized by respiratory tract infections, abnormal organ placement, and an inability to have children (infertility). DNAI1 gene mutations result in an absent or abnormal intermediate chain 1. Without a normal version of this subunit, the ODAs cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force needed to bend back and forth. Defective cilia lead to the features of primary ciliary dyskinesia.

Heterotaxy syndrome

MedlinePlus Genetics provides information about Heterotaxy syndrome

Other Names for This Gene

• axonemal dynein intermediate chain 1
• CILD1
• DIC1
• DNAI1_HUMAN
• dynein intermediate chain 1, axonemal
• dynein intermediate chain DNAI1
• dynein, axonemal, intermediate chain 1
• dynein, axonemal, intermediate polypeptide 1
• IC78
• ICS1
• immotile cilia syndrome 1
• MGC26204

Genomic Location

Normal Function

The OFD1 gene provides instructions for making a protein whose function is not fully understood. It appears to play a critical role in the early development of many parts of the body, including the brain, face, limbs, and kidneys.

The OFD1 protein is located at the base of cilia, which are finger-like projections that stick out from the surface of cells. Cilia are involved in cell movement and in many different chemical signaling pathways. They play important roles in the development and function of many parts of the body. Researchers suspect that the OFD1 protein is essential for the normal formation of cilia.

Studies suggest that the OFD1 protein may have additional functions. In the earliest stages of development, it appears to be involved in determining the left-right axis (the imaginary line that separates the left and right sides of the body). The OFD1 protein is also found in the nucleus, although its function in this cell structure is unknown.

Health Conditions Related to Genetic Changes

Oral-facial-digital syndrome

About 100 mutations in the OFD1 gene have been found in people with oral-facial-digital syndrome type I, which is the most common form of the disorder. These mutations include changes in single DNA building blocks (base pairs) and larger deletions of genetic material from the OFD1 gene. Most of these genetic changes lead to the production of an abnormally short, nonfunctional version of the OFD1 protein. It is unclear how a shortage of functional OFD1 protein leads to the specific features of oral-facial-digital syndrome type I. However, studies suggest that a lack of this protein prevents the normal formation of cilia, which affects the development of many tissues and organs.

Joubert syndrome

Mutations in the OFD1 gene can also cause several other disorders with features that overlap with those of oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye movements, and breathing problems.

The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short version of the OFD1 protein. However, studies suggest that these mutations result in a somewhat longer protein than the mutations that cause oral-facial-digital syndrome. This protein may retain some of its usual function in cilia. The abnormal protein probably disrupts the development or function of cilia in some way, although it is unclear how these changes result in the signs and symptoms of Joubert syndrome.

Primary ciliary dyskinesia

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Simpson-Golabi-Behmel syndrome

MedlinePlus Genetics provides information about Simpson-Golabi-Behmel syndrome

Other disorders

At least one OFD1 gene mutation has been found in a family with a form of X-linked intellectual disability. Individuals with this condition have severe intellectual disability, an unusually large head size (macrocephaly), and breathing problems.

This OFD1 gene mutation leads to the production of an abnormally short version of the OFD1 protein. However, the altered protein appears to be longer than the abnormal proteins involved in oral-facial-digital syndrome (described above). This protein may retain some of its usual function in cilia. The abnormal protein probably disrupts the development or function of cilia in some way, although it is unclear how these changes result in the signs and symptoms of X-linked intellectual disability.

Other Names for This Gene

• 71-7A
• CXorf5
• JBTS10
• MGC117039
• MGC117040
• OFD1_HUMAN
• oral-facial-digital syndrome 1
• SGBS2

Genomic Location

Normal Function

The RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies suggest that it plays an important role in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input, including hearing, smell, and vision.

Several different versions (isoforms) of the RPGR protein are produced from the RPGR gene. One version contains a segment known as the ORF15 exon. This version of the RPGR protein is active (expressed) predominantly in the retina, which is the light-sensitive tissue at the back of the eye. Specifically, the ORF15-containing isoform is found in the retina's specialized light receptor cells (photoreceptors). Researchers suspect that this isoform may help maintain photoreceptors by regulating the function of cilia. Other isoforms of the RPGR protein are expressed in other parts of the body, where they are probably also involved in cilia function.

Health Conditions Related to Genetic Changes

Retinitis pigmentosa

More than 300 mutations in the RPGR gene have been found to cause the X-linked form of retinitis pigmentosa. This condition primarily affects males, causing night blindness in early childhood followed by progressive daytime vision loss. RPGR gene mutations account for about 70 percent of all cases of X-linked retinitis pigmentosa.

Most of the mutations responsible for X-linked retinitis pigmentosa occur in the ORF15 exon of the RPGR protein. These mutations usually result in an abnormally short, malfunctioning protein. Changes in the structure of the RPGR protein likely disrupt the normal function of cilia in photoreceptor cells. However, it is unclear how these changes lead to the gradual loss of photoreceptors and resulting vision problems that are characteristic of retinitis pigmentosa.

Cone-rod dystrophy

Mutations in the RPGR gene can cause X-linked cone-rod dystrophy. The problems associated with this condition include a loss of visual sharpness (acuity), an increased sensitivity to light (photophobia), and impaired color vision. These vision problems worsen over time.

The genetic changes that cause X-linked cone-rod dystrophy likely disrupt the function of cilia in photoreceptor cells. It is unclear how these changes lead to the pattern of photoreceptor loss that results in cone-rod dystrophy.

Primary ciliary dyskinesia

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Other disorders

Although most RPGR gene mutations cause X-linked retinitis pigmentosa (described above), a few mutations in the ORF15 exon have been found in people with other retinal disorders. These include cone-rod dystrophy (described above), cone dystrophy, and atrophic macular degeneration. These retinal disorders are characterized by progressive vision abnormalities, although their signs and symptoms are distinct from retinitis pigmentosa.

Several additional RPGR gene mutations have been reported in people with a combination of retinitis pigmentosa and signs and symptoms affecting other parts of the body. In addition to progressive vision loss, affected individuals can have chronic respiratory and sinus infections, recurrent ear infections (otitis media), and hearing loss.

It is unclear why mutations in the RPGR gene can cause a variety of disorders. Studies suggest that certain mutations may disrupt the function of cilia in multiple tissues, including the inner ear and respiratory tract. Malfunctioning cilia in these tissues may underlie the hearing loss and respiratory abnormalities seen in some affected individuals. However, researchers are still working to determine how RPGR gene mutations cause specific abnormalities involving the retina and other parts of the body.

Other Names for This Gene

• COD1
• CORDX1
• CRD
• PCDX
• retinitis pigmentosa 15
• retinitis pigmentosa 3 GTPase regulator
• RP15
• RP3
• RPGR_HUMAN
• X-linked retinitis pigmentosa GTPase regulator
• XLRP3

Genomic Location

Most cases of primary ciliary dyskinesia (PCD) are inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. To have PCD, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to have the disorder
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier

Very rarely, PCD is inherited in an X-linked recessive pattern.

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.

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.

Your healthcare provider or your child’s provider will diagnose primary ciliary dyskinesia (PCD) based on your symptoms, family history, and test results.

Genetic testing

Researchers have found many gene 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.

Your provider 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.

Unfortunately, no treatment is available yet to fix faulty airway cilia, which are the tiny, hairlike structures that line the airways. Treatments for primary ciliary dyskinesia (PCD) focus 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

Your healthcare team

You may have several providers caring for you besides your primary healthcare provider.

• An ear, nose, and throat (ENT) specialist may help diagnose and treat PCD. 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.

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.
• 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.

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 healthcare providers to learn how to manage PCD. You will need ongoing care, such as lung imaging tests, to check how well your lungs are working.

Learn how PCD can affect your health

PCD is a lifelong condition that can lead to serious problems, depending on how serious the condition is for you. Talk to your provider about your risk.

Possible health effects or problems from PCD include those listed below.

• Kartagener’s syndrome: This syndrome is a common health problem that affects people with PCD. It involves three disorders: chronic sinusitis, bronchiectasis, and situs inversus. Situs inversus is a condition in which the internal organs, such as the heart, stomach, spleen, liver, and gallbladder, are on the opposite side of the body from where they normally are.
• Repeated respiratory infections and pneumonia: This can lead to bronchiectasis.
• Fertility problems in men: PCD can affect the cilia-like structures that help sperm cells move. Because the sperm cells don’t move well, men who have the disease may have difficulty fathering children.
• Fertility problems in women: Women may have problems getting pregnant, likely because of faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.)
• Respiratory failure: Frequent respiratory infections can damage your lungs and, over time, lead to respiratory failure.

Manage your condition

Between medical checkups, you can practice good self-care and follow a healthy lifestyle.

• Quit smoking, or do not start. 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. Visit Smoking and Your Heart and Your Guide to a Healthy Heart. Although these resources focus on heart health, they include basic information about how to quit smoking. For free help and support to quit smoking, you can call the National Cancer Institute’s Smoking Quitline at 1-877-44U-QUIT (1-877-448-7848).
• Choose heart-healthy foods. These include a variety of fruits, vegetables, whole grains, lean meats, and fat-free or low-fat milk or milk products. A healthy diet is low in saturated fat, cholesterol, sodium (salt), and added sugar.
• Wash your hands often to lower your risk of infection.
• Do chest physical therapy as your healthcare provider recommends.
• Avoid medicines that suppress coughing. Coughing helps clear mucus from your airways.
• Get regular vaccines. Talk to your or your child’s provider about which vaccines you may need to help lower the risk of some infections.

Take care of your mental health

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

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