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Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
Primary ciliary dyskinesia (PCD) is a hereditary disorder of mucociliary clearance causing chronic upper and lower airways disease. We determined the number of patients with diagnosed PCD across Europe, described age at diagnosis and determined risk factors for late diagnosis. Centres treating children with PCD in Europe answered questionnaires and provided anonymous patient lists. In total, 223 centres from 26 countries reported 1,009 patients aged < 20 yrs. Reported cases per million children (for 5-14 yr olds) were highest in Cyprus (111), Switzerland (47) and Denmark (46). Overall, 57% were males and 48% had situs inversus. Median age at diagnosis was 5.3 yrs, lower in children with situs inversus (3.5 versus 5.8 yrs; p < 0.001) and in children treated in large centres (4.1 versus 4.8 yrs; p = 0.002). Adjusted age at diagnosis was 5.0 yrs in Western Europe, 4.8 yrs in the British Isles, 5.5 yrs in Northern Europe, 6.8 yrs in Eastern Europe and 6.5 yrs in Southern Europe (p < 0.001). This strongly correlated with general government expenditures on health (p < 0.001). This European survey suggests that PCD in children is under-diagnosed and diagnosed late, particularly in countries with low health expenditures. Prospective studies should assess the impact this delay might have on patient prognosis and on health economic costs across Europe.
bronchiectasis, ciliary motility disorders, diagnosis, epidemiology, kartagener syndrome, primary ciliary dyskinesia
0903-1936
1248-1258
Kuehni, C. E.
ac67c925-ee32-429d-a3b5-c244daa314b4
Frischer, T.
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Strippoli, M-P.F.
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Maurer, E.
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Bush, Andrew
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Nielsen, K.G.
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Escribano, A.
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Lucas, J.S.A.
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Yiallouros, P.
f9abca18-00cf-4ff1-a696-655da6adfe78
Omran, H.
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Eber, E.
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O'Callaghan, C.
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Snijders, D.
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Barbato, A.
cf14e3df-69e4-4a00-ad8f-33dfb2347741
Kuehni, C. E.
ac67c925-ee32-429d-a3b5-c244daa314b4
Frischer, T.
643dd3e6-8727-44bb-8867-35120e97da5d
Strippoli, M-P.F.
87c88dbb-2d32-410b-9b84-6e3c6e4b115c
Maurer, E.
1edb44f7-8bc4-4eb1-9f20-66f13e40f1a7
Bush, Andrew
a713e310-97b4-4a76-8fb6-7f86628556ed
Nielsen, K.G.
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Escribano, A.
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Lucas, J.S.A.
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Yiallouros, P.
f9abca18-00cf-4ff1-a696-655da6adfe78
Omran, H.
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Eber, E.
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O'Callaghan, C.
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Snijders, D.
db1d459b-be52-4d60-abd7-12030a633964
Barbato, A.
cf14e3df-69e4-4a00-ad8f-33dfb2347741

Kuehni, C. E., Frischer, T., Strippoli, M-P.F., Maurer, E., Bush, Andrew, Nielsen, K.G., Escribano, A., Lucas, J.S.A., Yiallouros, P., Omran, H., Eber, E., O'Callaghan, C., Snijders, D. and Barbato, A. (2010) Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. European Respiratory Journal, 36 (6), 1248-1258. (doi:10.1183/09031936.00001010). (PMID:20530032)

Record type: Article

Abstract

Primary ciliary dyskinesia (PCD) is a hereditary disorder of mucociliary clearance causing chronic upper and lower airways disease. We determined the number of patients with diagnosed PCD across Europe, described age at diagnosis and determined risk factors for late diagnosis. Centres treating children with PCD in Europe answered questionnaires and provided anonymous patient lists. In total, 223 centres from 26 countries reported 1,009 patients aged < 20 yrs. Reported cases per million children (for 5-14 yr olds) were highest in Cyprus (111), Switzerland (47) and Denmark (46). Overall, 57% were males and 48% had situs inversus. Median age at diagnosis was 5.3 yrs, lower in children with situs inversus (3.5 versus 5.8 yrs; p < 0.001) and in children treated in large centres (4.1 versus 4.8 yrs; p = 0.002). Adjusted age at diagnosis was 5.0 yrs in Western Europe, 4.8 yrs in the British Isles, 5.5 yrs in Northern Europe, 6.8 yrs in Eastern Europe and 6.5 yrs in Southern Europe (p < 0.001). This strongly correlated with general government expenditures on health (p < 0.001). This European survey suggests that PCD in children is under-diagnosed and diagnosed late, particularly in countries with low health expenditures. Prospective studies should assess the impact this delay might have on patient prognosis and on health economic costs across Europe.

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More information

Published date: December 2010
Keywords: bronchiectasis, ciliary motility disorders, diagnosis, epidemiology, kartagener syndrome, primary ciliary dyskinesia
Organisations: Infection Inflammation & Immunity

Identifiers

Local EPrints ID: 173537
URI: http://eprints.soton.ac.uk/id/eprint/173537
ISSN: 0903-1936
PURE UUID: c04c57fe-47b8-4b02-98a7-8209faf9c2fb
ORCID for J.S.A. Lucas: ORCID iD orcid.org/0000-0001-8701-9975

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Date deposited: 04 Feb 2011 11:55
Last modified: 14 Mar 2024 02:46

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Contributors

Author: C. E. Kuehni
Author: T. Frischer
Author: M-P.F. Strippoli
Author: E. Maurer
Author: Andrew Bush
Author: K.G. Nielsen
Author: A. Escribano
Author: J.S.A. Lucas ORCID iD
Author: P. Yiallouros
Author: H. Omran
Author: E. Eber
Author: C. O'Callaghan
Author: D. Snijders
Author: A. Barbato

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