Abstract
Diagnosis of primary ciliary dyskinesia (PCD) lacks a “gold standard” test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.
Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests.
HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL·min−1 cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific.
In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (≤30 nL·min−1) contributes well to the diagnostic process. In isolation nNO screening at this cut-off would miss ∼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority.
Abstract
Combination testing in PCD diagnosis remains the most accurate approach, but standardisation is needed http://ow.ly/TLEDu
Footnotes
Editorial comment in: Eur Respir J 2016; 47: 699–701 [DOI: 10.1183/13993003.01914-2015].
This article has supplementary material available from erj.ersjournals.com
Support statement: The National Primary Ciliary Dyskinesia (PCD) Diagnostic Service at University Hospital Southampton is commissioned and funded by NHS England. Research at Southampton PCD Centre receives funding from EU-FP7 BESTCILIA 305404. PCD research in Southampton is supported by the National Institute for Health Research (NIHR) Southampton Respiratory Biomedical Research Unit and the NIHR Wellcome Trust Clinical Research Facility. J.S. Lucas, C. Kuehni, W.T. Walker and L. Behan are members of the European Respiratory Society Task Force to develop a practice guideline for diagnosis of PCD (ERS TF-2014-04). Authors are participants in COST Action BEAT-PCD (BM1407). Funding information for this article has been deposited with FundRef.
Conflict of interest: Disclosures can be found alongside the online version of this article at erj.ersjournals.com
- Received May 13, 2015.
- Accepted October 15, 2015.
- Copyright ©ERS 2016
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