Primary Ciliary Dyskinesia (PCD)

Primary Ciliary Dyskinesia (PCD) is a rare, genetic disorder in which the airways of the lungs (bronchi) become infected and filled with pus, due to abnormalities of the cilia (microscopic hairs that sweep secretions out of the respiratory tract). If left untreated, the repeated infections caused by PCD can lead to lung damage.

Symptoms

PCD mainly affects the lungs, ears and sinuses. Symptoms include:

  • Lungs: Breathing problems in newborns, recurrent pneumonia, chronic cough and collapsed lung.
  • Ears: Repeated infections of the middle ear and hearing loss.
  • Sinuses: chronic sinus infections, nasal congestion and runny nose.

Other symptoms include infertility, Bronchiectasis and Situs inversus (a condition in which the internal organs such as the heart, spleen and liver are located in positions that are opposite to normal)

Diagnosis

There are two main tests used to diagnose PCD:

  • Genetic testing; A sample of blood will be taken and sent to a lab for genetic testing.
  • Electron microscopy: Samples of the cilia will be taken from inside the nose or the aiways and studied under an electron microscope.

Treatment

Unfortunately there is no cure for PCD, so the aim of the treatment is to alleviate symptoms and prevent further damage. Treatments include:

  • Chest physical therapy: A form of physical therapy used to loosen the mucus from the lungs (which can then be coughed up), via repeated pounding on the back and chest with the hands or one of a number of specialist devices.
  • Exercise: Regular aerobic exercise can increase the airflow through the lungs and help loosen the mucus to be coughed up.
  • Medication: A range of medications such as antibiotics, bronchodilators, or anti-inflammatory medicines can be used to treat lung infections and reduce associated symptoms

In cases of severe damage to the lung (from Bronchiectasis), surgery can be performed to remove damaged parts of the lung (lung volume reduction surgery) or as a last resort, a lung transplant may also be considered.