The Trust’s team
has an international reputation in the diagnosis and treatment of PCD.
We have the largest and busiest PCD specialist service in Europe with more than 300 child and adult patients under our care.
The Trust’s service offers 18 consultant-led annual assessment clinics and 12 multidisciplinary follow-up clinics
each year as well as an outreach programme of clinics and home and school visits.
What is PCD?
PCD is an inherited genetic disorder of the structure and / or function of the cilia, which are the tiny microscopic moving structures lining the airways, ears, sinuses and some other areas of the body. The sweeping, wave-like motion of cilia is important for keeping these areas clean and free from infection, acting as an essential primary defence barrier. In patients with PCD, this wave-like motion does not happen in the normal way, and in some, it does not happen at all.
Without properly functioning cilia, people with PCD are unable to protect their respiratory system, they get a lot of lung infections and their lungs deteriorate over time. The disease is very complex as several other organ systems can be affected, including the heart. Half of all patients will have a mirror image arrangement of their internal organs, known as situs inversus
, and a small proportion of cases have complex cardiac disease.
Many patients suffer significant upper airway and ear problems, including a condition known as glue ear where the middle ear fills with fluid. Severe glue ear can lead to poor hearing, delayed speech and difficulties in achieving at school. The disease often also affects fertility, because the sperm tail is a cilium and the fallopian tubes are lined with cilia.
The disease effects approximately 1 in 20,000 people, and although inherited in a similar way to cystic fibrosis it is often much more difficult to diagnose. It is inherited recessively, which means that both parents have the PCD gene.
PCD can be difficult to diagnose because patients can present with exaggerated forms of common childhood illnesses with runny nose, ear infections and frequent cough. Doctors need to look for key signs, such as situs inversus
How is PCD diagnosed?
In most cases, PCD is diagnosed as an outpatient. Cell samples of are taken from the nose using a small brush. Samples are examined "live" using a light microscope to assess beat pattern and frequency. The sample is then looked at in much closer detail to pick out the specific defects and confirm the diagnosis.
Genetic testing is increasingly important in diagnosing this disease. There are now almost 30 known PCD-causing genes. The Trust's PCD team has been involved in genetic research for the condition for 20 years and is able to identify over 60 per cent of cases in this way.
Am I a carrier?
At the moment, there is no definitive test to determine who is a carrier, but there are some tests with can use that offer reasonable success. We only do carrier testing where a PCD-causing mutation is known within the extended family.
Genetics tests for PCD are generally only for research purposes. This is because, to date, only around 60 per of cases can be diagnosed this way. With other tests using two special types of microscopes, we can confirm a diagnosis in over 85% of cases. However, rapid advances in working out different gene types should lead to a clinical genetic diagnostic test in the next two to three years.
What is the treatment?
PCD lung disease is managed in a very similar way to any form of bronchiectasis
, including cystic fibrosis
Airway clearance with daily physiotherapy
, nebulisers and other techniques is the key to preventing the lung disease progressing.
Antibiotics are used to treat infections, sometimes over long periods of time. On occasion, patients come into hospital for intravenous antibiotics, intense physiotherapy and bronchoscopy if physiotherapy and infection management is not leading to improved symptoms and lung function.