Statistics from Altmetric.com
- Kartagener’s syndrome
- chronic secretory otitis media
- neonatal respiratory distress
In response to the leading article on primary ciliary dyskinesia (PCD)1 and the commentary by Dr Andrew Boon, we write as clinicians with an interest in PCD who work in general paediatrics and neonatology.
We agree with Dr Boon that the identification of an uncommon medical disorder from the large number of children presenting with common symptoms and signs is a major challenge for the general paediatrician. We also support the view that it is undesirable and certainly impractical to refer every child with recurrent episodes of cough, rhinitis, and serous otitis media for further investigation.
However, we believe that the aim of the editorial by Professor C O’Callaghan and Dr A Bush was to provide information on subtle differences in the clinical presentation of PCD to help us differentiate these patients from those with common non-specific childhood respiratory problems. For example, it is uncommon for a term infant to be admitted to a neonatal unit with significant respiratory concerns following a vaginal delivery but common in infants with PCD. We performed an as yet unpublished questionnaire survey of individuals belonging to the PCD support group which identified that 47% had been admitted to a neonatal unit with unexplained respiratory problems following a normal vaginal delivery. Rhinitis is also very rarely seen in normal neonates but is extremely common in patients with PCD. Other subtle clues increasing the likelihood of PCD are the characteristic of the cough and middle ear problems especially the development of persistent otorrhoea after tympanostomy tube insertion.
There is of course no doubt that a cheap reliable screening test would significantly help promote early diagnosis of PCD but it is not yet on the horizon. A detailed history especially of the neonatal period will help those working in neonatology or general paediatrics to highlight the patient that should be referred for further investigations including cilia studies.