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Primary ciliary dyskinesia (PCD) is a rare genetic disorder in which defective cilia in the lungs cause lung infections. PCD is also known as "immotile cilia syndrome" or "Kartagener Syndrome."
Cilia are tiny, hair-like structures that line our upper and lower airways to keep our lungs, sinuses and ears free of microbes and debris that can cause infection and disease. Cilia move with our breath to sweep germs and dust particles up and out of our lungs. In children with PCD, cilia don’t move effectively and patients experience recurrent or persistent infections of the lung, sinuses and ears, which also have cilia.
In addition to having non-mobile cilia, approximately half of PCD patients have their internal organs reversed from left to right (situs inversus) and men are usually infertile.
PCD is a genetic disorder, meaning that it is inherited from one’s parents and cannot be acquired after birth or from the environment. PCD is generally inherited in an “autosomal recessive” fashion, meaning an affected child inherits two copies of a mutated, faulty “PCD” gene, one from each parent. Parents are considered “carriers” because they carry one mutation but do not typically have the classic symptoms of PCD themselves.
So far, mutations in more than 10 genes have been found to cause PCD. It is likely that many more mutations in other genes will be discovered as scientists and doctors learn more about the genetic basis for this rare disorder. There may be mutations in up to 200 genes that cause PCD because more than 200 proteins combine together to make motile cilia in the body.
PCD affects both males and females from all racial and ethnic groups. A child can only get PCD if he or she inherits the faulty PCD gene from both parents.
Most people with PCD have symptoms from birth or beginning at a very young age. Symptoms generally affect the sinuses, ears and lungs and include:
About half of people with PCD also have Kartagener syndrome. This involves three disorders: chronic sinusitis (the sinuses are often infected or inflamed), bronchiectasis (the airways widen and become
The diagnosis of PCD is most commonly made by identifying structural or functional problems with the cilia. Health care providers examine the cilia structure using a high powered microscope. Samples of cilia are obtained from either the nose or lower airways (trachea).
Genetic testing, which relies on a blood sample to see if a child has the mutated “PCD” gene, is now becoming more readily available. It is likely that genetic testing will become the main way to officially diagnose PCD in the future.
Measuring nasal nitric oxide (a gas made by our bodies) is a useful additional test and for PCD in children ages 5 and older. People with PCD have very low levels of nasal nitric oxide.
The symptoms of PCD, such as a runny nose and ear infections, are normal for all children, which makes diagnosing PCD difficult. Some symptoms also point to other respiratory conditions like cystic fibrosis. Your child’s medical history, symptoms and test results will all be used to make a diagnosis.
Right now, there is no way to fix faulty cilia, so treatments address the symptoms of PCD and work to improve patients’ quality of life. One of the primary goals of treatment is to induce coughing, which helps the body rid itself of bacteria and reduces infections and illnesses.
Chest physiotherapy is one technique frequently used to loosen mucus in the lungs so it can be coughed up. This therapy includes pounding a patient’s chest several times with hands or a device while they sit or lie down with their head down, using gravity to help drain mucus from their lungs. As children with PCD get older, there are a number of mechanical mucus clearance devices and technologies that may tried.
Aerobic exercise, which makes a patient breathe harder, can also help loosen mucus so it can be coughed up. You should discuss exercise plans with your child’s doctor to make sure they are safe and appropriate for the patient.
Some medications may also be used to address PCD symptoms. Antibiotics are often prescribed to treat lung infections that result from PCD.
Doctors often recommend periodic chest x-rays, pulmonary function tests and respiratory cultures to monitor the progress of PCD and determine if any changes are needed in the patient’s current treatment plan.
Our specialists are on the forefront of evaluating new methods of diagnostic testing and new treatment approaches for patients with PCD. At Children’s Colorado, we are researching the disease to better understand the natural history of PCD and to plan for clinical trials for new treatment options.
In our clinics, we believe a multidisciplinary approach to condition management is the best way to improve quality of life for our young patients. In addition to Children's Colorado's emergency and inpatient services, being housed with a variety of pediatric subspecialists contributes significantly to our ability to provide a full-spectrum of care.
Extensive diagnostic testing is available for both infants and older children, and an experienced staff of doctors, nurses, dieticians, social workers, child life therapists and therapists allows families to benefit from the team approach to the evaluation and management of patients with asthma, breathing and lung conditions. Our collaborative approach also incorporates and facilitates family involvement and involves close collaboration with your primary healthcare provider.
Certified Pediatric Nurse Practitioner
Critical Care - Pediatric, Pulmonology - Pediatric, Pediatrics
Certified Pediatric Nurse Practitioner
Allergy & Immunology, Pediatrics