Primary Ciliary Dyskinesia and Bronchiectasis Clinic
Seattle Children’s Primary Ciliary Dyskinesia and Bronchiectasis Clinic offers complete services for diagnosing and managing primary ciliary dyskinesia (PCD) and other types of bronchiectasis in children and young adults.
The clinic is part of Seattle Children’s Pulmonary Program and includes a team of doctors, nurses and respiratory therapists committed to providing complete and compassionate care for your child. We work closely with experts in many of Seattle Children's clinics, including Otolaryngology, Audiology and Immunology. Cystic fibrosis, another cause of bronchiectasis, has a separate Cystic Fibrosis Program.
What is PCD?
Primary ciliary dyskinesia (dis-kie-nee-zhuh), also called PCD, is a rare genetic condition where the tiny hair-like cells lining the airways of the lungs (cilia) do not beat properly. The inactive cilia are unable to clear out germs, mucus and particles like dust from the lungs.
It is difficult to diagnose PCD because the symptoms are not specific. Most children with PCD had difficulty breathing at birth, which required oxygen or breathing support, and have developed lasting nasal drainage and wet cough that started within the first 6 months of life. PCD can lead to repeated sinus, ear and respiratory infections, as well as damage to the airways. Because these little hairs (cilia) are also in the inner ear canal and tubes that carry sperm, hearing loss and male infertility can also result.
Multiple tests are often needed to diagnose children or adults with PCD. These tests may include a combination of genetic testing, looking at cilia under the microscope and a simple test measuring nitric oxide in the nose, which is lower in people with PCD.
Many children with PCD need ear tubes, regular hearing screening or hearing aids. Currently, there is no cure or drugs specifically for people with PCD, but treatments such as airway clearance exercises, antibiotics, sinus rinses and ear tubes can help.
“When we learned our baby was born with an extremely rare disease that most people have never even heard of, I just wanted to shout it from the mountaintops. How can there be a fix to a problem that most people don’t know exists? I wanted to bring awareness to PCD.”
What is bronchiectasis?
Bronchiectasis (bron-kee-eck-tuh-sis) is abnormal widening of the airways of the lung (bronchi) that can be seen on chest CT (computed tomography). It causes chronic cough, mucus production and frequent respiratory infections.
There are many causes of bronchiectasis, including:
- Genetic conditions (including primary ciliary dyskinesia)
- Problems with the immune system (reduced ability to fight infection)
- Past lung infections
- Problems with swallowing causing food or fluids to accidently be breathed into the lung
Why choose Seattle Children’s Primary Ciliary Dyskinesia and Bronchiectasis Clinic?
Seattle Children’s is the only PCD referral center in the Pacific Northwest, with patients coming from Washington, Wyoming, Idaho, Oregon, Alaska and Montana. We are the only center in the Northwest that performs nasal nitric oxide testing, which can be used to help diagnose PCD.
For more than a decade, U.S. News & World Report has consistently ranked us among the top pediatric pulmonary programs in the nation, which means your child will be cared for by the very best.
Our providers see patients for regular follow-ups to make sure their needs are being met and they are responding to their therapies.
For over 15 years, Dr. Margaret Rosenfeld has been Seattle Children’s site investigator in the Genetic Disorders of Mucociliary Clearance (GDMCC) Consortium. Dr. BreAnna Kinghorn is also involved. The consortium is made up of eight clinical research sites across North America and is working to advance knowledge of PCD and other rare lung diseases. The consortium has identified many new genetic causes of PCD, standardized the approach to diagnosing PCD and characterized the changes over time in people with PCD. As part of the consortium, Seattle Children’s participated in the first multicenter clinical trial for PCD.
Services We Provide
Spirometry, plethysmography and diffusing capacity lung function tests can be performed to assess lung function or how much air moves in and out of the lungs. Spirometry can be performed around 5 years of age, whereas plethysmography and diffusing capacity can be performed in late childhood/adolescence.
Measuring nasal nitric oxide is one important tool for diagnosing PCD. This is a simple, quick and painless test that can be done in children over 5 years of age. We perform the test in our pulmonary function lab. The next closest labs performing nasal nitric oxide testing are in Denver, Colorado, and Palo Alto, California.
Nasal ciliary biopsies involve scraping the inside of the nose to examine the cilia under an electron microscope. The nasal scrape is quick and is done by our otolaryngology team.
Genetic testing for mutations in genes known to cause PCD is generally part of the testing for PCD. Genetic testing is also available for immune deficiencies.
Who's on the team?
Seattle Children’s multidisciplinary Primary Ciliary Dyskinesia and Bronchiectasis Clinic team includes pulmonologists, otolaryngologists, respiratory therapists and nurses.
Resources for Patients and Families
You and your family may find helpful information on these links and patient handouts.
- Primary Ciliary Dyskinesia Foundation (PCD Foundation – Helping Those Affected by Primary Ciliary Dyskinesia)
- Pulmonary Function Testing in Children – American Thoracic Society
- Bronchiectasis – NIH
Scheduling an Appointment
If you would like a referral to the Primary Ciliary Dyskinesia and Bronchiectasis Clinic, talk to your primary care provider. How to schedule an appointment at Seattle Children’s.
Telemedicine at Seattle Children’s
We offer telehealth (virtual) appointments. Learn more.
For more information, contact us at 206-987-2174. If you would like an appointment, ask your child’s primary care provider for a referral.
Providers, see how to refer a patient.