Primary Ciliary Dyskinesia (PCD)
What is Primary Ciliary Dyskinesia (PCD)?
Primary ciliary dyskinesia (PCD) is an inherited disease caused by impaired function of cilia. An impaired ciliary function can cause frequent sinus, ear and lung infections, abnormal organ positioning and infertility. Chronic infections cause a poor quality of life and the potential for irreversible lung damage and hearing impairment if not detected and treated early.What are the Symptoms of PCD?
Clinical symptoms of PCD affect the entire respiratory tract, and most symptoms occur on a chronic basis and start early in life.
Many newborn babies with PCD develop neonatal respiratory distress despite a full-term gestation.
Most PCD patients experience year-round nasal congestion or chronic sinusitis, which starts in infancy and doesn’t resolve with season changes nor between viruses. Nearly all patients with PCD will have a persistent cough - usually described as wet and productive though occasionally dry. Cough can partially improve with antibiotics but usually doesn’t change with seasons.
Recurrent pneumonia or bronchitis is common in patients with PCD. An array of organ defects can occur with PCD. Patients with PCD can have situs inversus totalis, where internal organs are on the opposite side of the body. Others have situs ambiguous, where some organs are on the opposite side or have abnormal structure. Patients with PCD may also have fertility issues.
How is PCD Diagnosed?
PCD can be diagnosed in several different ways. Cilia biopsy is the diagnostic gold standard. A sample of cilia from the nose or the airway is obtained by a surgeon with the patient under anesthesia, and this is processed by electron microscopy.
Genetic testing for PCD is available. Though this is a growing field, advances are still being made. PCD genetic testing currently is incomplete, and diagnosis could be missing utilizing this modality alone.
It has recently been shown that nasal nitric oxide (nNO) production is significantly lower in patients with PCD compared to healthy and disease controls, offering the potential for a sensitive, specific, and non-invasive way of detecting PCD. nNo testing, which can only be done in the PCD clinic, involves a small sponge inserted just into the tip of the nostril to measure nasal nitric oxide.
In addition to nNO, four clinical characteristics have been shown to be highly predictive of PCD, including:
- early-onset, daily wet cough
- early-onset nasal congestion
- unexplained newborn respiratory distress
- laterality defect
How is PCD Managed?
For the management of PCD, outpatient visits with a specialist are recommended about two to four times annually. Regular surveillance of respiratory cultures will be performed, as well as a chest x-ray, every 2-4 years. It is also recommended that patients with PCD visit an ENT specialist.
- Daily airway clearance and exercise
- Inhaled medications to help expectorate mucus
- Nasal sinus lavage
- Standard vaccines
- Annual flu vaccine
- Pneumovax
- Synagis (for the first winter)
- Infection control protocols
- Targeted antibiotic therapy with acute change in cough, sputum production, respiratory rate or work of breathing for respiratory exacerbations
Caring for Patients with PCD
PCD Foundation
The PCD Foundation was established in 2002 with the goal to improve the quality of life of those affected by PCD and to develop the means to find a cure.
You can learn more at PCDfoundation.org.
Nationwide Children’s Hospital is listed as a PCD Foundation Clinical Center. The Primary Ciliary Dyskinesia Center at Nationwide Children’s offers many advantages for patients who need a more comprehensive care plan for their condition.
The multidisciplinary care approach is built into every visit and every treatment. In addition to your PCD physician specialist, your child will be treated by a team of experts that include ear, nose & throat (ENT) physicians, a genetics team, social workers, dieticians and mental health coordinators. This approach allows for an even greater capacity to provide best outcomes and management of PCD symptoms.