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Primary Ciliary Dyskinesia (PCD)

Primary Ciliary Dyskinesia (PCD), also known as Immotile Cilia Syndrome, is a rare genetic birth defect that involves the blocking of respiratory passages. Patients with PCD have abnormal or absent ciliary motion. Cilia are tiny hair-like structures that move mucus out of the respiratory passages. During infections more mucus is produced and because the abnormal cilia can’t move or move ineffectively, mucus becomes stuck and blocks the respiratory tract, causing various complications.

  • PCD is commonly characterized by chronic sinusitis and bronchiectasis. Bronchiectasis occurs when the bronchial tubes are blocked and chronically infected, causing the tubes to weaken and stretch out. The widened tubes allow more mucus and bacteria to accumulate, leading to infection and possibly pneumonia. Trapped mucus can also cause difficulty breathing, wheezing, and coughing to clear the mucus.
  • It is estimated that the prevalence of PCD is approximately 1 in 16,000 live births.
  • Kartagener’s Syndrome is a variant of PCD that results from a combination of chronic sinusitis, bronchiectasis and situs inversus, where some of the patient’s organs are reversed. For example, the heart is on the right side instead of the left. The reversed organs do not usually pose a problem for the patient.  About 50 percent of patients with PCD have Kartagener’s Syndrome.
  • Because of their susceptibility to pneumonia and infections, people with PCD should get immunized, avoid tobacco smoke, and exercise regularly to prevent sickness.
  • Cilia are also found in the brain and reproductive organs so patients with PCD may have chronic headaches and on rare occasion, hydrocephalus (spinal fluid buildup in the brain). Males with PCD are usually infertile because sperm is propelled by flagella similar in structure to cilia. There is debate on whether PCD affects female fertility.
  • It is difficult to diagnose PCD because of its similarities to cystic fibrosis and other more common diseases. The only definitive way of detecting PCD is with a biopsy. Research for genetic testing of PCD is in progress.
  • There is currently no cure for PCD, but patients are generally treated for respiratory tract infections with antibiotics and close observation to prevent bronchiectasis. A doctor or therapist can also recommend various techniques to clear mucus. If mild or moderate, PCD patients receiving proper treatment and monitoring can expect to live a full life.