Diagnosing primary ciliary dyskinesia

O’Callaghan, Christopher; Chilvers, Mark; Hogg, Claire; Bush, Andrew; Lucas, Jane S.

doi:10.1136/thx.2007.083147

Cited by 64 publications

(69 citation statements)

References 8 publications

(4 reference statements)

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“…Diagnostic investigation of PCD, outlined above, requires specialist skills, and is time consuming, costly and only available in a small number of specialist centres. A reliable screening test is therefore desirable [41]. For many years, the saccharin test was used, but it is difficult to perform and is unreliable in children [6,43].…”

Section: Screening: the Role Of Nasal Nitric Oxidementioning

confidence: 99%

“…There is also an increasing literature on a population of atypical patients with PCD and normal ciliary ultrastructure, associated with mutations in Alveolar epithelial cells [17] Paranasal epithelial cells [18] Endothelial eNOS NOS3 7 Airway epithelial and endothelial cells [19] dynein axonemal heavy chain [11], that would be missed in centres where diagnosis depends on electron microscopy without access to high-speed video microscopy [38][39][40]. For difficult diagnostic cases, the re-differentiation of basal epithelial cells at an air-liquid interface in cell culture allows for reassessment of ciliary function and ultrastructure that may differentiate primary from secondary dyskinesia [6,41,42].…”

Section: Diagnosismentioning

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: 99%

Section: Diagnosismentioning

confidence: 99%

Nitric oxide in primary ciliary dyskinesia

et al. 2012

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“…Primary ciliary dyskinesia (PCD) is predominantly inherited as an autosomal recessive disorder leading to recurrent and chronic upper and lower respiratory tract infection, and, in 40-50% of cases, mirror-image organ arrangement and other forms of heterotaxy [1]. To date, these disorders of dysmotile cilia have been poorly studied in children; indeed most of the therapeutic strategies used are derived from cystic fibrosis (CF) protocols, underscoring the need for more PCD research.…”

Section: Introductionmentioning

confidence: 99%

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Barbato¹,

Frischer²,

Kuehni³

et al. 2009

European Respiratory Journal

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458

587

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Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility.The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function.Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage.This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

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“…Three centres that were already performing diagnostic testing on a research basis were commissioned to provide a service for adults and children within the infrastructure of the National Health Service [2,3]. Hospitals in Southampton, London and Leicester work collaboratively with shared protocols, competencybased training of scientists, difficult case meetings and cross-centre audits.…”

Section: Diagnostic Testing In England (Jane Lucas)mentioning

confidence: 99%

“…Significant advances have been made in the diagnosis of patients with primary ciliary dyskinesia (PCD) including centralised services [1][2][3], European consensus guidelines [4], systematic, protocol-directed diagnostic testing in a national service in the UK [2] and in a PCD research consortium in North America [1], and evidence for standardisation of nasal nitric oxide testing as a test for PCD [5]. Moreover, there have been striking advances in discovery of PCD genes and multigene panels in Europe and North America.…”

mentioning

confidence: 99%