• Margaret W Leigh, Milan J Hazucha, Kunal K Chawla, Brock R Baker, Adam J Shapiro, David E Brown, Lisa M Lavange, Bethany J Horton, Bahjat Qaqish, Johnny L Carson, Stephanie D Davis, Sharon D Dell, Thomas W Ferkol, Jeffrey J Atkinson, Kenneth N Olivier, Scott D Sagel, Margaret Rosenfeld, Carlos Milla, Hye-Seung Lee, Jeffrey Krischer, Maimoona A Zariwala, and Michael R Knowles.
• 1 Department of Pediatrics.
• Ann Am Thorac Soc. 2013 Dec 1;10(6):574-81.

RationaleSeveral studies suggest that nasal nitric oxide (nNO) measurement could be a test for primary ciliary dyskinesia (PCD), but the procedure and interpretation have not been standardized.ObjectivesTo use a standard protocol for measuring nNO to establish a disease-specific cutoff value at one site, and then validate at six other sites.MethodsAt the lead site, nNO was prospectively measured in individuals later confirmed to have PCD by ciliary ultrastructural defects (n = 143) or DNAH11 mutations (n = 6); and in 78 healthy and 146 disease control subjects, including individuals with asthma (n = 37), cystic fibrosis (n = 77), and chronic obstructive pulmonary disease (n = 32). A disease-specific cutoff value was determined, using generalized estimating equations (GEEs). Six other sites prospectively measured nNO in 155 consecutive individuals enrolled for evaluation for possible PCD.Measurements And Main ResultsAt the lead site, nNO values in PCD (mean ± standard deviation, 20.7 ± 24.1 nl/min; range, 1.5-207.3 nl/min) only rarely overlapped with the nNO values of healthy control subjects (304.6 ± 118.8; 125.5-867.0 nl/min), asthma (267.8 ± 103.2; 125.0-589.7 nl/min), or chronic obstructive pulmonary disease (223.7 ± 87.1; 109.7-449.1 nl/min); however, there was overlap with cystic fibrosis (134.0 ± 73.5; 15.6-386.1 nl/min). The disease-specific nNO cutoff value was defined at 77 nl/minute (sensitivity, 0.98; specificity, >0.999). At six other sites, this cutoff identified 70 of the 71 (98.6%) participants with confirmed PCD.ConclusionsUsing a standardized protocol in multicenter studies, nNO measurement accurately identifies individuals with PCD, and supports its usefulness as a test to support the clinical diagnosis of PCD.

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