What are the symptoms? 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. How is it diagnosed? 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. How is it treated? 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. Inheritance patterns and prenatal diagnosis Inheritance patternsPCD is mainly inherited as an autosomal recessive, but with other inheritance patterns possible. Prenatal diagnosisIn a few patients, the responsible genes have been identified, opening up the possibility of antenatal testing in selected couples. Is there support? PCD Family Support Group Email: via websiteWebsite: pcdsupport.org.uk 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.
What are the symptoms? 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.
How is it diagnosed? 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.
How is it treated? 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.
Inheritance patterns and prenatal diagnosis Inheritance patternsPCD is mainly inherited as an autosomal recessive, but with other inheritance patterns possible. Prenatal diagnosisIn a few patients, the responsible genes have been identified, opening up the possibility of antenatal testing in selected couples.
Is there support? PCD Family Support Group Email: via websiteWebsite: pcdsupport.org.uk 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.