Diagnosis
What is PCD?
Primary ciliary dyskinesia (PCD) is a rare inherited disease.
Many people will be the first in their family to be diagnosed with this condition.
Most people with PCD have symptoms from birth, but the diagnosis often takes a long time to be made.
Tiny microscopic hairs called cilia line the wall of the lungs, nose, sinuses and ears. They clear mucus containing bacteria and particles by beating in a coordinated manner. By clearing the mucus, they act as a defence against infection.
People with PCD are born with a defect which prevents the cilia from beating normally, resulting in repeated chest infections and symptoms that may include a chronically runny nose, chronic sinusitis, glue ear (which can cause deafness), a wet cough and fertility problems.
Some people with PCD have their heart or other organs on the opposite side to normal. This is called situs inversus.
How do I find out if I have PCD?
First you need to be referred by a hospital doctor, such as a paediatrician, respiratory consultant, ear, nose and throat (ENT) surgeon, neonatal specialist, or infertility consultant.
You will be sent an appointment to attend a PCD outpatient clinic.These are held at Southampton General Hospital on Tuesday and Thursday mornings.
If you have had a cold or increase in your symptoms in the four weeks before your appointment date, please contact us. We may need to delay your visit because we may be unable to undertake the necessary tests.
The consultant or nurse specialist will ask you about your current health problems and past medical history.
The consultant will agree a medical plan with you as you will not get the results of the PCD test immediately and may have to wait 8-12 weeks.
Following this, there are a few investigations that will be carried out to test for PCD by a specialist technician or nurse:
Nitric oxide levels
For adults and children over the age of about six, a test called nasal nitric oxide is performed.
This test measures the amount of a gas called nitric oxide in the nose.
We use a small tube to gently suck air from your nose into a computer while you are holding your breath.
Usually this procedure is repeated several times in order to get a number of similar readings. It is not uncomfortable.
Lung function tests
A lung function test is also performed which involves blowing hard into a tube connected to a computer.
This helps to measure how well your lungs are working.
This is usually repeated several times to get three similar readings.
Nasal brushings
The final test that is carried out is called a nasal brushing, for which a small sample of nasal hairs (cilia) is taken by inserting a tiny brush just inside each nostril. The test will make the patient's eyes water and is uncomfortable for a few seconds.
The laboratory staff then examine how the sample of cilia are beating and also look at their structure.
As we have to fix the sample, it can take a couple of months to get the final results. On some occasions, an additional sample is required.
The PCD consultant will keep you informed by post of the results. If the results are positive, we will recall you back to clinic to explain the diagnosis and treatment.