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Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries

Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries
Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries
Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.

In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.
Rumman, Nisreen
2fa983a0-2b5d-44cb-bbb4-79b1eb0a632c
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Collins, Samuel
4321c1ff-4afe-428c-9c9c-c1d417251cac
Goggin, Patricia
90c80d17-9f7a-4401-8e6f-919c63efe5e6
Coles, Janice
fb9d20aa-93b9-42b3-9b9e-bab2f565ea60
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Rumman, Nisreen
2fa983a0-2b5d-44cb-bbb4-79b1eb0a632c
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Collins, Samuel
4321c1ff-4afe-428c-9c9c-c1d417251cac
Goggin, Patricia
90c80d17-9f7a-4401-8e6f-919c63efe5e6
Coles, Janice
fb9d20aa-93b9-42b3-9b9e-bab2f565ea60
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313

Rumman, Nisreen, Jackson, Claire, Collins, Samuel, Goggin, Patricia, Coles, Janice and Lucas, Jane (2017) Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries. European Respiratory Review, 26 (143). (doi:10.1183/16000617.0058-2016).

Record type: Article

Abstract

Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.

In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.

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Accepted/In Press date: 2 August 2016
e-pub ahead of print date: 17 January 2017
Published date: 17 January 2017
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 407117
URI: https://eprints.soton.ac.uk/id/eprint/407117
PURE UUID: edeee787-ee23-446d-a51c-bb9fe2d23426
ORCID for Samuel Collins: ORCID iD orcid.org/0000-0003-1571-7410

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Date deposited: 29 Mar 2017 01:15
Last modified: 10 Dec 2019 06:10

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