Primary Ciliary Dyskinesia (PCD) is a rare genetic condition in which the cilia lining the airways, ears and sinuses do not function properly. Normal functioning cilia clear out secretions and potentially harmful organisms or particles from the airways. When the cilia do not function properly, a buildup of bacteria and debris can accumulate in the lungs, airways and sinuses that can lead to an increased chance of developing an infection.
Symptoms of PCD
- Respiratory distress in a full-term newborn without a clear explanation
- Daily wet cough or runny nose and congestion that starts in the first year of life
- Recurrent ear infections, chronic congestion, pneumonia, or bronchitis
- Bronchiectasis where the airways are damaged and enlarged from recurrent infection
- Situs Inversus Totalis: a condition where internal organs are in the opposite position of what is normal
Children with PCD should receive regular checkups, live a healthy lifestyle and be compliant with care to maintain lung health. Although there is no cure for PCD, children with this disease can grow to live full, active lives.
Diagnosis of PCD
The Diagnosis of PCD may include some or all of the following:
- An evaluation of the clinical symptoms above
- Obtaining a blood sample to test for genetic defects associated with PCD
- Nasal Nitric Oxide Test: controlled breathing test performed on patients 5 and older. Nasal nitric oxide levels are often low in patients with PCD
- Ciliary Biopsy: a rush from the nasal passages will obtain a sample of cilia that can be examined under a microscope
Treatments
Treatments
Current treatments for PCD focus on improving lung function and limiting the progression of the disease.
Therapies include:
- Airway Clearance. Airway clearance therapy is quite beneficial for patients with PCD. It helps clear mucus from the airways. It can be performed by clapping the chest and back with your hands (chest physiotherapy) or by using a vest that provides high-frequency chest wall oscillation to assist with airway clearance. Exercise also promotes airway clearance.
- Mucolytics. These are inhaled medications that help thin the mucus out in the airways so you can cough it out of your lungs. Hypertonic Saline and Pulmozyme are examples of mucolytics.
- Bronchodilators. Bronchodilators are asthma medicines that are inhaled to relax and expand the airway, making it easier to breathe. Albuterol, Pro-Air, and Ventolin are examples of bronchodilators.
- Antibiotics. Antibiotics are given for patients that have a change in cough, sputum production, or an increase work of breathing. Antibiotics will help clear up infections. Amoxicillin and Azithromycin are examples of an antibiotics that are used in patients with PCD.
- Inhaled Antibiotics. Patients that have a positive respiratory culture will be treated with inhaled antibiotics. Tobramycin is an example of an inhaled antibiotic.
- Nasal rinsing/irrigation. This helps relieve congestion in the sinuses and the nose. Over-the-counter sinus irrigation solutions are available, or your child's doctor may prescribe antibiotics or steroids.
- Ear tubes. Placement of ear tubes may be recommended for children with chronic ear infections to relieve pain, pressure and to correct conductive hearing loss resulting from fluid buildup behind the eardrum.
What to Expect
What to Expect
Riley Children's Health offers the only Primary Cilirary Dyskinesia Center in Indiana. The center provides multiple services including pulmonary function testing, respiratory cultures, genetic testing, X-rays, consults, nasal nitric oxide testing and more.
Key Points To Remember
Key Points To Remember
- PCD is a rare genetic condition in which the cilia that line the airways, lungs, sinuses and ears do not work correctly.
- Children with PCD should receive regular checkups, live a healthy lifestyle and be compliant with care to maintain lung health.
- Treatment for PCD includes several different types of therapies that promote lung health.
- With proper treatment, your child can live an active life.
Support Services & Resources
Support Services & Resources
Visit the following online resources to learn more about PCD.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
The Primary Ciliary Dyskinesia Foundation was established to raise awareness of PCD, promote research for better treatments and find a cure for primary ciliary dyskinesia.
Primary Ciliary Dyskinesia Research
Primary Ciliary Dyskinesia Research
The Pulmonology & Respiratory Care Department at Riley at IU Health participates in research for PCD. Ask your child's doctor for more information about our current studies.
Locations
Locations
Locations
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.