Journal of Respiration
Challenges in Diagnosing Primary Ciliary Dyskinesia and the Role of Nasal Nitric Oxide Testing: A Single Center Experience
By Mikiyas Teshome Desta, Claire L. Keating, Aliva De and 1 others.
Abstract
Rationale
Nasal nitric oxide (nNO) measurement is a recommended noninvasive screening tool for primary ciliary dyskinesia (PCD), but studies examining its real-world performance are limited, and integration of PCD diagnostic pathways varies across centers.
Objective
The objective of this study was to evaluate the diagnostic utility of nNO, describe phenotypic profiles of patients with low and normal NO levels, and highlight the existing challenges in diagnosing PCD.
Methods
We assessed the diagnostic performance of nNO testing in patients with suspected PCD, known PCD, or bronchiectasis/bronchiolitis with no known etiology who underwent nNO measurement using the velum closure technique between January 2023 and May 2025. We recorded and analyzed baseline clinical features, pulmonary function testing values, microbiologic data, and available genetic and other PCD diagnostic testing results.