Children with primary ciliary dyskinesia will receive state-of-the-art and compassionate treatment from pulmonary experts and their teams at Children’s Health℠ to manage the genetic condition.
What is Pediatric Primary Ciliary Dyskinesia (PCD)?
Primary ciliary dyskinesia (PCD) is a term that refers to genetic (inherited) disorders of cilia. Cilia are microscopic, whip-like organelles (little organs) that line the upper and lower respiratory tract, including nasal passages, sinuses, lungs, ear tubes, reproductive organs and the ventricles of the brain.
Cilia, together with airway mucus, provide the first line of defense for the airways, maintaining healthy airway tissue. This important biological system is known as “mucociliary clearance.” Defects of mucociliary clearance can lead to recurrent ear and sinus infections, pneumonia and other pulmonary diseases. Cystic fibrosis is an example of another genetic disorder of mucociliary clearance that shares many features with PCD.
About half of children with PCD also have situs inversus, a condition in which internal organs are the mirror image of where they usually are. The heart, for example, is on the right side of the body instead of the left.
What are the signs and symptoms of Pediatric Primary Ciliary Dyskinesia (PCD)?
Most patients with PCD are well after birth but develop respiratory distress when they are 12-24 hours old. Signs and symptoms include:
- Bronchiectasis, which presents as scarring or permanent damage to the airways
- Chronic cough, which is usually present from birth or early infancy
- Excessive production of mucus and recurrent lung infections
- Frequent and severe ear congestion/infections, resulting in conductive hearing loss in children
- Male infertility, female sub-fertility or ectopic pregnancy
- Neonatal respiratory problems, in rare instances resulting in infant death
- Neurogenic hearing loss that may occur in adults
- Organ placement/structural abnormalities
- Sinusitis, often severe and from an early age
How is Pediatric Primary Ciliary Dyskinesia (PCD) diagnosed?
Doctors can diagnose PCD in a number of ways. Frequently, multiple tests are required for diagnosis and management. Tests include:
- Blood work
- Breathing tests
- Ciliary brushings - Samples of the cells that contain cilia on their surfaces, such as the nose or airways, can be analyzed for the presence of proteins that help cilia beat normally.
- Computed tomography (CT) scan
- Chest radiographs (X-rays)
- Flexible bronchoscopy
- Nasal Nitric oxide (nNO)- Air is extracted from the nasal passages and measured for levels of nitric oxide. Children with PCD have very low levels of nitric oxide gas in their nasal air.
- Sputum cultures
In some cases, PCD may first be diagnosed as asthma, chronic bronchitis or bronchiectasis.
What are the causes of Pediatric Primary Ciliary Dyskinesia (PCD)?
Primary ciliary dyskinesia (PCD) is caused by mutations in genes that control the structure and function of cilia.
How is Pediatric Primary Ciliary Dyskinesia (PCD) treated?
Doctors can treat the symptoms of PCD, but not the cause. To date, no specific treatments are available to correct the genetic defect. There is no cure for PCD, but early recognition and treatment slows the progression of lung damage and increases life expectancy.
- Antibiotics to treat lung and or sinus infections
- Airway clearance and aggressive treatment of respiratory inflammation and infection in the upper and lower respiratory tracts.
More strenuous intervention is required for disease exacerbations (flare-ups). The use of IV or inhaled antibiotics and supplemental oxygen may be required for acute symptoms. Repeated hospitalizations are common with PCD.