Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is a relatively rare genetic condition. Several genes for the condition have been found, and more are being sought. The prevalence is almost certainly underestimated. Late diagnosis is common, as are mild cases picked up by screening siblings of an index case. Even given a prevalence of 1 in 15,000, there will be around 70 new cases born per year, and 3,000 cases in the UK in total. The diagnosis has implications for many aspects of upper and lower respiratory tract disease, in particular the avoidance of inappropriate ear nose and throat (ENT) procedures and the assessment and treatment of deafness.
A diagnosis of PCD should be considered under a number of circumstances; no one feature is an absolute indication, and a combination of signs and symptoms may be more suggestive than one single indication on its own.
Medical text written February 2002 by Professor Andrew Bush. Last Updated September 2007 by Professor Andrew Bush, Professor of Paediatric Respirology, Royal Brompton Hospital, London, UK.
At least half the PCD patients have symptoms when first born. These include unexplained tachypnoea (unusually rapid breathing) or neonatal pneumonia, rhinorrhea (runny nose), dextrocardia (heart positioned too far to the right) or complete mirror image arrangement with structurally normal heart; other heterotaxy (body structures arranged unusually); complex congenital heart disease, oesophageal atresia or other severe defects of oesophageal function (see entry Tracheo-oesophageal Fistula and/or Oesophageal Atresia), biliary atresia (see Liver disease) hydrocephalus and positive family history.
In the infant and older child, symptoms include asthma that is atypical or not responsive to treatment, chronic particularly wet cough, sputum production in the older child who is able to expectorate, very severe gastro-oesophageal reflux; bronchiectasis; rhinosinusitis (inflammation of the nose and sinus) and chronic and severe secretory otitis media (ear infection).
In the adult, presentation is as in the older child, but also impaired female fertility including ectopic pregnancy and male infertility.
Diagnosis is first suspected by history and physical examination. Attention must be paid to the timing of onset of symptoms (particularly the onset at birth, which is highly suggestive of the diagnosis). Diagnostic tests are performed in three centrally funded units, at Leicester Royal Infirmary; Royal Brompton Hospital, London; and Southampton General Hospital. Testing includes measurement of the output of a gas called nitric oxide from the nose (very low in people with PCD), and examination of structure and function of cilia from a nasal brushing.
There is no cure for the condition. The aim is to prevent lung damage and bronchiectasis by chest physiotherapy, exercise and the aggressive use of antibiotic. Hearing problems usually improve by the teenage years, and tympoanostomy tubes should be avoided if possible.
PCD is mainly inherited as an autosomal recessive, but with other inheritance patterns possible.
In a few patients, the responsible genes have been identified, opening up the possibility of antenatal testing in selected couples.
PCD Family Support Group
Email: via website
The Group is a Registered Charity in England and Wales No. 1049931. It provides information and support to people with Primary Ciliary Dyskinesia and their families and carers.
Group details last updated February 2016.