The utility of nasal nitric oxide in the diagnostic evaluation of primary ciliary dyskinesia.

Autor: Carr KA; Department of Pediatric Allergy, Immunology and Pulmonary Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Moore PE; Department of Pediatric Allergy, Immunology and Pulmonary Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., O'Connor MG; Department of Pediatric Allergy, Immunology and Pulmonary Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Jazyk: angličtina
Zdroj: Pediatric pulmonology [Pediatr Pulmonol] 2024 May; Vol. 59 (5), pp. 1410-1417. Date of Electronic Publication: 2024 Feb 21.
DOI: 10.1002/ppul.26929
Abstrakt: Background: There is no gold-standard test for primary ciliary dyskinesia (PCD), rather American Thoracic Society guidelines recommend starting with nasal nitric oxide (nNO) in children ≥5 years old and confirming the diagnosis with genetic testing or ciliary biopsy with transmission electron microscopy (TEM). These guidelines have not been studied in a clinical setting. We present a case series describing the PCD diagnostic process at our pediatric PCD center.
Methods: Diagnostic data from 131 patients undergoing PCD consultation were reviewed.
Results: In all participants ≥ 5 years old and who completed nNO using resistor methodology, the first diagnostic test performed was nNO in 77% (73/95), genetic testing in 14% (13/95), and TEM in <1% (9/95). nNO was the only diagnostic test performed in 75% (55/73) of participants who completed nNO first. Seventy-five percent (55/73) had a single above the cutoff nNO value and PCD was determined to be unlikely in 91% (50/55) without performing additional confirmatory testing. Eleven percent (8/73) had multiple below the cutoff nNO values, with 38% (3/8) being diagnosed with PCD by confirmatory testing and 50% (4/8) with negative confirmatory testing, but being managed as PCD. The genetic testing positivity rate was 50% in participants who completed nNO first and 8% when genetic testing was completed first.
Conclusion: nNO is useful in three situations: an initial above the cutoff nNO value makes PCD unlikely and prevents additional confirmatory testing, repetitively below the cutoff nNO values without positive confirmatory testing suggests a probable PCD diagnosis and the yield of genetic testing is higher when nNO is performed first.
(© 2024 The Authors. Pediatric Pulmonology published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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