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.
Abstract
PCD diagnosis with limited resources http://ow.ly/eYN7302Y2wg
Footnotes
Support statement: N. Rumman is the recipient of an European Respiratory Society Fellowship (STRTF 2014-6816). The National PCD Diagnostic Service at University Hospital Southampton (UHS) is commissioned and funded by NHS England. Research at UHS is supported by AAIR Charity, NIHR Southampton Respiratory Biomedical Research Unit and NIHR Wellcome Trust Clinical Research Facility, Southampton, UK. All authors are participants of COST Action BEAT-PCD: Better Evidence to Advance Therapeutic options for PCD (BM 1407). J.S. Lucas chairs the European Respiratory Society Task Force for the development of a practice guideline for diagnosis of PCD (ERS TF-2014-04) and receives research funding from the European Union's Seventh Framework Programme under EC-GA No. 305404 BESTCILIA: Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia. Funding information for this article has been deposited with the Open Funder Registry.
Conflict of Interest: Disclosures can be found alongside this article at err.ersjournals.com
Provenance: Submitted article, peer reviewed.
- Received June 10, 2016.
- Accepted August 2, 2016.
- Copyright ©ERS 2017.
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