Question: What is (are) Primary Ciliary Dyskinesia ?
Answer: 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.
Source: NHLBI

Question: Who is at risk for Primary Ciliary Dyskinesia? ?
Answer: 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.
Source: NHLBI

Question: What are the symptoms of Primary Ciliary Dyskinesia ?
Answer: 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 Chronic nasal congestion Runny nose with mucus and pus discharge Chronic sinus infections Ears: - Chronic middle ear infections - Hearing loss 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 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 symptomssuch as ear infections, chronic cough, and runny noseare 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.
Source: NHLBI

Question: What are the treatments for Primary Ciliary Dyskinesia ?
Answer: 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.
Source: NHLBI