Primary ciliary dyskinesia (PCD)
Children with primary ciliary dyskinesia (pri·ma·ry - cil·i·ary - dys·ki·ne·sia) or PCD 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 primary ciliary dyskinesia (PCD)?
Primary ciliary dyskinesia (PCD) is a term that refers to genetic (inherited) disorders of cilia. It is a congenital disease. 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 (CF) 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 (dextrocardia).
What are the signs and symptoms of 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 of primary ciliary dyskinesia (PCD) 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 primary ciliary dyskinesia (PCD) diagnosed?
Doctors can diagnose PCD in a number of ways. Frequently, multiple tests are required for diagnosis and management of primary ciliary dyskinesia (PCD) including:
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.
Chest radiographs (X-rays)
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 primary ciliary dyskinesia (PCD)?
Primary ciliary dyskinesia (PCD) is caused by mutations in genes that control the structure and function of cilia.
How is 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.
Interventions for primary ciliary dyskinesia (PCD) include:
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.