Diagnosis

You or your child will be seen by a consultant who will talk to them about their symptoms, your family and if they feel it necessary, they will conduct several diagnostic tests.

These may include:

• Measuring the level of nitric oxide (‘NO’) in the nose: this involves breathing into a small tube. It is a painless, ‘non-invasive’ test and is usually done in people aged 5+.
• A cilia biopsy: a small brush is used to ‘sweep’ cilia cells from high inside the nasal passages. This is slightly uncomfortable but is very quick. It might make your eyes water or make you sneeze. The cells are grown in a laboratory and then analysed using special microscopes to see how the cilia look and beat.
• A blood test: Sometimes your doctor will recommend a genetic blood test to identify the affected gene causing your PCD. Scientist have now identified 50 genes that cause PCD. It is important not to only have genetic blood test, as these only identify around 70% of PCD cases.
• Chest x-rays or a CT Scan: These scans are important for looking at your lungs and are generally considered low risk. You should speak to your doctor if you are worried.
  Lung function tests: you may be asked by a nurse, physio or technician to blow into a special machine to see how well your lungs work. This is completely painless.

Once diagnosed with PCD, you will be introduced to the PCD team who will look after your care. You will have access to a PCD specialist nurse who can help you with any aspect of having the condition.

Being diagnosed with PCD will affect all members of the family. Patients and their carers can react in many ways to the news that they or their child has a disability or medical condition. There may be feelings of isolation, worry, and a struggle to come to terms with the news, “why me?”. There may be problems balancing work and caring/introducing treatments into your schedule.  There may also be increased financial worries and a lack of understanding and support from those around you.

It is important that you talk to someone about the diagnosis. Try to make use of all your support networks – it might be your husband/wife or partner, relative, friend or neighbour or contact us.

After the initial diagnosis, many patients/carers think of lots of questions for their consultant. It is often useful to keep a list of these to ask at your next consultation, but if they are urgent, then contact your clinical nurse specialist.

You might find a professional counselling service a helpful way of unloading some of your thoughts and feelings. You can ask your PCD specialist nurse about this, or talk to your GP, who should be able to tell you about any local services.

Air liquid interface (ALI) culture: A method of growing cilia in an incubator so they can be analysed free from bugs and mucus. If successful this means another brushing will not be needed. Occasionally, if infection is present, it doesn’t work and a repeat nasal brushing may be necessary. 

Cilia: Microscopic, hair like structures that line the airways in the chest, nose and ears. Cilia beat in a coordinated way to clear the airways of mucus and debris. This process is known as mucociliary clearance (MCC). In PCD, MCC is absent or ineffective. 

Ciliary beat frequency (CBF): The speed at which cilia beat. 

Ciliary beat pattern (CPB): The way in which the cilia move.  Normally cilia move together in a coordinated pattern, in PCD they move erratically or not at all.

Consanguineous: Descended from the same ancestor e.g. family members, related by blood.

Dynein arms: Microscopic (tiny) structures within cilia that enable them to beat.  If they are absent or not constructed properly the cilia will usually be static (not moving) or twitching. 

Dyskinetic: Not moving in a coordinated fashion.

High speed video microscopy (HSVM): The method used to examine the ciliary beat pattern and frequency from the cilia sampled during a nasal brushing. Video recordings are taken through a microscope and are slowed down to aid analysis. 

Hz: Hertz, a unit used to measure the speed or frequency of the beating cilia (CBF)

Immunofluorescence (IF): A microscope method to look at proteins within the cilia using coloured labels. Absence of a protein may help diagnose PCD.

Microscopic: Anything that is so tiny that it invisible to the naked eye and can only be seen with special microscopes. 

Microtubule: Microscopic structures within the cilia which have a role in helping them beat properly and coordinate with one another. 

Mucociliary clearance (MCC): Often compared to an escalator, MCC is the process of the cilia moving mucus and debris to the back of the throat where it can be swallowed. This does not happen effectively in PCD.

Nasal brushing biopsy: The process of inserting a small brush into the nostril to take a sample of cilia. These samples are then observed using various microscopes and techniques and can be re-grown in ALI culture. 

Nasal nitric oxide (nNO) test: A simple breathing test to measure the level of nitric oxide in the nose and sinuses. In PCD, nNO tends to be lower than in the general population, but not always. 

ppb: Parts per billion, a unit used to measure nNO levels. This is sometimes converted to nanolitres per min (nL/min). 

Rotating: Moving round in circles. Rotating cilia do not effectively move mucus causing PCD. 

Static: Not moving

Tomography: A three-dimensional (3D) examination of cells at high magnification to examine the internal structure and identify defects within the cilia’s ultrastructure. This is usually only used to look for very specific defects within the cilia when a defect cannot be seen using traditional TEM. 

Transmission electron microscopy (TEM): A two-dimensional (2D) examination of cells at high magnification to examine the internal structure and identify defects within the cilia’s ultrastructure which is carried out routinely for all patients who have PCD testing. Around 15% people with PCD have normal TEM results. 

Ultrastructure: The fine structure within the cilia, made up of microtubules, dynein arms and other microscopic structures.