EDITORIAL
Diagnosing primary ciliary dyskinesia
Diagnosing primary ciliary dyskinesia
1 Leicester Royal Infirmary Children’s Hospital and Institute of Lung Health, Leicester Royal Infirmary, Leicester LE2 7LX, UK
2 Royal Brompton Hospital, London SW3 6NP, UK
3 Southampton University Hospital NHS Trust, Southampton SO16 6YD, UK
Correspondence to:
Correspondence to:
Professor Chris O’Callaghan
Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, P O Box 65, Leicester LE2 7LX, UK; ajb64@le.ac.uk
A nationally funded diagnostic service should lead to improved outcome
| The first 150 words of the full text of this article appear below. |
The National Specialist Commissioning Advisory Group (NSCAG) has funded three centres to establish and provide a national diagnostic service for England for children and adults suspected of suffering from primary ciliary dyskinesia (PCD). This is welcomed, as state of the art diagnostic testing will be available nationally which will increase the numbers of patients diagnosed with a condition in which early diagnosis has a very significant effect on both short-term and long-term morbidity. Inheritance is autosomal recessive with an incidence of around 1:15 000 in the Caucasian population and, as expected, we have found a much higher incidence in ethnic groups where consanguineous marriages are common. Accurate diagnosis will allow appropriate genetic counselling of families.
PCD is caused by one of a number of different ciliary defects that result in ineffective mucociliary clearance. Although most patients with PCD have symptoms from birth or early infancy,1 the
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