Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

Pifferi, Massimo; Bush, Andy; Caramella, Davide; Cicco, Maria Di; Zangani, Marta; Chinellato, Iolanda; Macchia, Pierantonio; Boner, Al

doi:10.1183/09031936.00068810

Cited by 75 publications

(76 citation statements)

References 32 publications

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“…Contrary to the majority of published data [3,7,47,48,52,54], two groups [53,58] have recently reported normal and raised levels of nasal nitric oxide in patients with PCD. A study of PCD-positive patients, confirmed by live ciliary function analysis and scrutiny of ciliary axonemal ultrastructure [6], reported five patients with nasal nitric oxide within or above the normal range [53].…”

Section: Screening: the Role Of Nasal Nitric Oxidementioning

confidence: 43%

“…A study of PCD-positive patients, confirmed by live ciliary function analysis and scrutiny of ciliary axonemal ultrastructure [6], reported five patients with nasal nitric oxide within or above the normal range [53]. A further study demonstrated that 24% of patients at an Italian PCD clinic (n541) had nasal nitric oxide of .250 ppb, although the diagnostic evidence for PCD in these patients is unclear [58]. These studies highlight that patients with a history strongly suggestive of PCD should not be excluded from further diagnostic evaluation on the basis of nasal nitric oxide.…”

Section: Screening: the Role Of Nasal Nitric Oxidementioning

confidence: 99%

“…This might explain, particularly given the importance of the paranasal sinuses in nitric oxide production [45], why nasal nitric oxide concentrations are low and do not vary significantly with manoeuvres that improve sinus ventilation [58,71,97]. In a recent study, computed tomography scans of the paranasal sinuses at the time of diagnostic investigation for PCD demonstrated that frontal and/or sphenoidal sinuses were either aplastic or hypoplastic in 30 (73%) out of 41 PCD patients, compared to only 38% of those with SCD [58].…”

Section: Hypothesis 4: Reduced Production and Storage Capacity Of Nitmentioning

confidence: 99%

“…At the anatomical level, it has been suggested that nitric oxide is sequestered in the upper respiratory tract within blocked paranasal sinuses or, alternatively, nasal nitric oxide biosynthesis or nitric oxide storage capacity is limited due to agenesis of the sinuses ( fig. 2) [58,71].…”

Section: Why Are Nitric Oxide Levels Reduced In Pcd?mentioning

confidence: 99%

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Nitric oxide in primary ciliary dyskinesia

et al. 2012

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Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by recurrent sinopulmonary infections due to impaired mucociliary clearance. Despite chronic infections, nasal nitric oxide in such patients is markedly reduced and is used as a screening test for this condition. These low levels were first described .15 yrs ago but the underlying mechanisms have yet to be fully elucidated. We review epithelial nitric oxide synthesis, release and measurement in the upper airways with particular reference to PCD. The key hypotheses that have been proposed to explain the low nitric oxide levels in this condition are explored and the potential benefits of augmenting airway nitric oxide levels are considered. Further work in these patients clarifying both whether the respiratory epithelium is able to biosynthesise normal levels of nitric oxide and the role played by abnormalities in the anatomy of the paranasal sinuses is essential. While nitric oxide augmentation is unlikely to be beneficial in common PCD phenotypes, it has potential in the treatment of secondary dyskinesias and may also improve treatment of bacterial infections, particularly where biofilms are implicated.

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Section: Screening: the Role Of Nasal Nitric Oxidementioning

confidence: 43%

Section: Screening: the Role Of Nasal Nitric Oxidementioning

confidence: 99%

Section: Hypothesis 4: Reduced Production and Storage Capacity Of Nitmentioning

confidence: 99%

Section: Why Are Nitric Oxide Levels Reduced In Pcd?mentioning

confidence: 99%

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Nitric oxide in primary ciliary dyskinesia

et al. 2012

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“…A few groups have recently reported normal levels of nasal NO in a minority of patients with PCD (1,11,13). These studies highlight that patients with a history strongly suggestive of PCD should not be excluded from further diagnostic evaluation on the basis of nNO, and also that, while providing an excellent screening test, nNO is not diagnostic and low levels should trigger referral to a highly specialized diagnostic center.…”

Section: Nasal Nitric Oxide Is An Important Test In the Diagnostic Pamentioning

confidence: 99%

Nasal Nitric Oxide Is an Important Test in the Diagnostic Pathway for Primary Ciliary Dyskinesia

Lucas

Walker²

2013

Annals ATS

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reporting complications of mechanical ventilation. More importantly, the entire process-development of the VAE performance protocol, publication of this protocol in AnnalsATS, and the follow-up process-represents an important era in the evolution of performance metrics and clinician accountability in critical care. The combined voice of professional societies representing pulmonary/critical care clinicians as partners with governmental regulatory agencies resulted in the development of performance metrics to be used in clinical accountability programs. Just as importantly, they developed a dynamic partnership so that clinicians remain involved in the evolution and refinement of performance metrics and accountability in the future. This partnership is crucial for ensuring that performance metrics have the highest likelihood of driving improved care for our patients, now and in the future.

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Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia

Dunsky

Menezes

Ferkol

2021

JAMA Otolaryngol Head Neck Surg

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IMPORTANCE Primary ciliary dyskinesia (PCD) is a rare, inherited condition involving motile cilia that line the upper and lower respiratory tracts, leading to chronic infections of the paranasal sinuses, middle ear, and bronchi that begin during infancy. Unfortunately, despite its early presentation, PCD is often recognized late.OBSERVATIONS People with PCD have diverse clinical manifestations, including chronic upper and lower respiratory tract disease, laterality defects, and subfertility. Through efforts of multinational clinical collaboratives, 4 cardinal features have been described that identify people who likely have PCD: unexplained neonatal respiratory distress, left-right laterality defects, daily wet cough, and nonseasonal rhinosinusitis beginning before 6 months of age. Recent advances in the understanding of the genetics and pathogenesis of the disease have led to a revolution in the approach to screening and diagnostic testing. Moreover, PCD has a broad clinical spectrum, and genotype-phenotype associations are beginning to be recognized. CONCLUSIONS AND RELEVANCEA high index of suspicion remains critical in diagnosing PCD.Children who have at least 2 of the major clinical features should be considered for further evaluation. Nevertheless, while newer tools have improved diagnostic capabilities, there is no single test that will diagnose every person with the disease. In people suspected of having PCD, nasal nitric oxide measurement is a useful screen, followed by diagnostic genetic testing and if negative, ciliary ultrastructural analysis. Despite otolaryngologic manifestations being common in infancy and persisting into adulthood, they have been understudied. Indeed, there are few randomized clinical trials examining the medicosurgical approaches to respiratory disease.

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Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

Cited by 75 publications

References 32 publications

Nitric oxide in primary ciliary dyskinesia

Nitric oxide in primary ciliary dyskinesia

Nasal Nitric Oxide Is an Important Test in the Diagnostic Pathway for Primary Ciliary Dyskinesia

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia

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