Primary ciliary dyskinesia (PCD)

What is 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.

Primary Ciliary Dyskinesia (PCD)  symptoms

Primary ciliary dyskinesia (PCD) mainly affects the lungs, ears and sinuses.

Lung symptoms:

• breathing problems in newborns
• recurrent pneumonia
• chronic cough
• collapsed lung

Ear symptoms:

• repeated infections of the middle ear
• hearing loss

Sinuses:

• chronic sinus infections
• nasal congestion
• runny nose

Other symptoms include:

• infertility
• bronchiectasis
• 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)

Diagnosing Primary Ciliary Dyskinesia (PCD)

There are two main tests used to diagnose primary ciliary dyskinesia (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 airways and studied under an electron microscope.

Primary ciliary dyskinesia (PCD) treatment

Unfortunately there is no cure for primary ciliary dyskinesia (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.

Surgery

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.