Nasal nitric oxide May not differentiate primary ciliary dyskinesia from certain primary immunodeficiencies

Saunders, Jessica L; O'Connor, M.G.; Machogu, Evans

doi:10.1002/ppul.25989

Cited by 5 publications

(3 citation statements)

References 6 publications

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“…nNO levels can be transiently below the cutoff during acute viral respiratory infections, then normalize after infection resolution 15 . Patients with immunodeficiencies can also have intermittently below the cutoff nNO levels 23 . nNO values may also normalize overtime due to improvement in testing technique and with age, as discussed previously.…”

Section: Discussionmentioning

confidence: 88%

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

Carr,

Moore,

O'Connor

2024

Pediatric Pulmonology

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BackgroundThere 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.MethodsDiagnostic data from 131 patients undergoing PCD consultation were reviewed.ResultsIn 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.ConclusionnNO 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.

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Section: Discussionmentioning

confidence: 88%

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

Carr,

Moore,

O'Connor

2024

Pediatric Pulmonology

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“…35,36 Recent guidelines recommend using nasal nitric oxide (nNO) as a diagnostic test for PCD in individuals with a compatible clinical history. 36 Saunders et al 37 Organ laterality abnormalities, including situs inversus and situs ambiguus, are present in approximately 50% of individuals with PCD 38 due to malfunction of nodal cilia that create signaling gradients during embryogenesis. 39 Wee et al 40 hypothesized that chest X-ray alone misses a significant number of organ laterality defects.…”

Section: Non-cf Bronchiectasis and Pcdmentioning

confidence: 99%

“…Recent guidelines recommend using nasal nitric oxide (nNO) as a diagnostic test for PCD in individuals with a compatible clinical history 36 . Saunders et al 37 reported low nNO in two children with immunodeficiency secondary to PIK3CD gene variants. As lung disease in such patients may resemble that of PCD, alternative diagnoses should remain in consideration for patients with decreased nNO until confirmation of PCD diagnosis by electron microscopy or genetic testing.…”

Section: Non‐cf Bronchiectasis and Pcdmentioning

confidence: 99%

Pediatric Pulmonology 2022 year in review: Rare and diffuse lung disease

Barber

Liptzin

Gower

et al. 2023

Pediatric Pulmonology

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The field of rare and diffuse pediatric lung disease continues to evolve and expand rapidly as clinicians and researchers make advancements in the diagnosis and treatment of children's interstitial and diffuse lung disease, non‐cystic fibrosis bronchiectasis, and primary ciliary dyskinesia. Papers published on these topics in Pediatric Pulmonology and other journals in 2022 describe newly recognized disorders, elucidate disease mechanisms and courses, explore potential biomarkers, and assess novel treatments. In this review, we will discuss these important advancements and place them in the context of existing literature.

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Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review

Büsch,

Memmott,

McLaughlin

et al. 2024

Adv Ther

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Nasal nitric oxide May not differentiate primary ciliary dyskinesia from certain primary immunodeficiencies

Cited by 5 publications

References 6 publications

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

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

Pediatric Pulmonology 2022 year in review: Rare and diffuse lung disease

Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review

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