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Presenting features in primary ciliary dyskinesia vary with age

Charles Beresford, Laura Behan, Jane Lucas, Samuel Collins
European Respiratory Journal 2016 48: PA3130; DOI: 10.1183/13993003.congress-2016.PA3130
Charles Beresford
1Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
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Laura Behan
1Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
2Clinical and Experimental Sciences Academic Unit, University of Southampton, Southampton, United Kingdom
3NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
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Jane Lucas
1Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
2Clinical and Experimental Sciences Academic Unit, University of Southampton, Southampton, United Kingdom
3NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
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Samuel Collins
1Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
2Clinical and Experimental Sciences Academic Unit, University of Southampton, Southampton, United Kingdom
3NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
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Abstract

Background: PCD presentation is non-specific and can lead to missed diagnosis. Wet cough, rhinitis, infertility and neonatal respiratory distress (NRD) are considered “classical” in PCD, however there is no data on whether this varies with age.

Objectives: To compare presenting features at time of diagnosis in PCD patients of different ages.

Methods: Prospectively collected data from 75 patients diagnosed with PCD. Patients were age-grouped (<1, 1 to 6, 6 to 19, 19 to 35 and >35 years) and clinical features recorded.

Results: Cough (82-100%) and persistent rhinitis were common in all age groups, though rhinitis was less common in <6y (67% v 91%, p<0.01). History of NRD was common in all ages, but less in adults than children (47% v 86%, p<0.01); fewer adults could provide a neonatal history (80% v 98%, p<0.05). No <1y reported ear symptoms whilst 66% of >1 years had a history of glue ear. Significantly more adults than children presented with bronchiectasis (90 v 10%, p<0.01) and sinusitis (60% v 17%, p<0.01)

<1 n=111-5 n=196-17 n=2518-35 n=1236+ n=8Total n=75
Wet cough100.084.280.041.750.074.6
Persistent rhinitis45.578.992.091.787.581.3
Neonatal respiratory distress100.084.280.041.750.074.6
Chronic otitis media057.968.083.362.557.3
Ear surgery057.968.083.362.557.3
Sinusitis010.528.058.362.528.0
Bronchiectasis0025.075.0100.029.3

Presenting features in each age group (%)

Conclusion: Persistent wet cough is a “hallmark” feature of PCD. Other features varied; fewer nasal symptoms in <6y, no ear symptoms in <1s and fewer reporting NRD in adults. Later diagnosis led to complications of chronic infection including bronchiectasis, chronic sinusitis and ear surgery, reinforcing the need for early diagnosis in PCD.

  • Epidemiology
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Presenting features in primary ciliary dyskinesia vary with age
Charles Beresford, Laura Behan, Jane Lucas, Samuel Collins
European Respiratory Journal Sep 2016, 48 (suppl 60) PA3130; DOI: 10.1183/13993003.congress-2016.PA3130

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Presenting features in primary ciliary dyskinesia vary with age
Charles Beresford, Laura Behan, Jane Lucas, Samuel Collins
European Respiratory Journal Sep 2016, 48 (suppl 60) PA3130; DOI: 10.1183/13993003.congress-2016.PA3130
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