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 affects 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.
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.
Annual review clinics
We hold six annual review clinics per year with a multidisciplinary team (MDT). The clinic has four respiratory consultants all with a special interest in PCD, one ENT surgeon, one clinical audiologist, two specialist physiotherapists and a clinical nurse specialist.
We also have the PCD diagnostic team available at this clinic to enable ongoing diagnostic tests to be completed and for the sibling screening programme.
We also hold 12 MDT PCD follow up clinics per year. This runs alongside our existing ENT service, and the MDT at these clinics is the same as our annual review clinics, except there is no audiologist on these days.
More information about PCD is also available from the PCD Family Support Group.
Due to the complexity of PCD, a multidisciplinary team approach is vital.
The teams consist of the following members:
Dr Claire Hogg, consultant
Dr Amelia Shoemark, senior clinical scientist
Dr Melissa Dixon, EM scientist
Sarah Ollossen, respiratory physiologist
Kate Kilpin, respiratory physiologist
Dr Siobhan Carr and Dr Claire Hogg, consultants
Miss Gemma Marsh, physiotherapist
Miss Abby Carlton, clinical nurse specialist
Miss Emily Frost, respiratory physiologist
Mr Michael Leshan, PCD secretary