What is primary ciliary dyskinesia (PCD)?
PCD is a rare inherited lung disease. It causes the airways to become blocked with mucus and the lungs to be chronically infected.
What are the symptoms of primary ciliary dyskinesia?
Children with PCD have frequent infections of the lungs, ears, throat, and sinuses. PCD is rarely considered, however, because its symptoms are common in other diseases ranging from allergies to cystic fibrosis.
What causes primary ciliary dyskinesia?
Roughly 1 in 12,000 to 1 in 30,000 infants are born with this rare disease. Research indicates the condition is common among children and adults in the Amish and Mennonite communities in the Midwest.
The symptoms in patients with PCD are due to defects in cilia that sit atop cells lining the respiratory tract, from the nose to the smallest airways of the lungs. The cilia do not beat rhythmically, making it difficult for mucus to move properly. Bacteria remain in the airway, causing frequent infections in the lungs and sinuses.
Infants with PCD have difficulty breathing and may initially require supplemental oxygen or even breathing support. At some point, their breathing improves, but other symptoms may increase with age such as persistent ear infections, runny nose, and a daily wet cough.
The build-up of mucus can result in bronchiectasis, which causes bronchial tubes to weaken and stretch out, and often leads to pneumonia.
In addition, about 50 percent of patients with PCD may have internal organs oriented in the opposite direction, such as the heart located on the right side rather than the left. This is called Kartagener's syndrome.
How is primary ciliary dyskinesia treated?
Treatment includes aggressive airway clearance techniques and antibiotic treatments. These steps can lead to stable lung function for years.
How serious is primary ciliary dyskinesia?
Cases of PCD vary greatly in severity. PCD can worsen over time, and no cure exists.
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