Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

Strippoli, Marie‐Pierre F.; Frischer, Thomas; Barbato, Angelo; Snijders, Deborah; Maurer, Elisabeth; Lucas, Jane S.; Eber, Ernst; Karadağ, Bülent; Pohunek, Petr; Živković, Zorica; Escribano, Amparo; O’Callaghan, Chris; Bush, Andrew; Kuehni, Claudia E.

doi:10.1183/09031936.00073911

Cited by 122 publications

(147 citation statements)

References 20 publications

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“…The recent task force on PCD of the European Respiratory Society showed that 77% of centers have access to analyze by electron microscopy, 57% to ciliary function tests and only 36% of centers use the nasal nitric oxide test for PCD screening [30]. This task force found substantial heterogeneity in management of PCD within and between countries.…”

Section: Discussionmentioning

confidence: 99%

Different Levels of Exhaled Nasal Nitric Oxide in Patients Diagnosed with Primary Dyskinesia

Bodini¹,

Peroni²,

Tenero³

et al. 2015

Arch Pulmonol Respir Care

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Background: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormally beating cilia. In these patients levels of nasal nitric oxide (nNO) are lower than those observed in healthy subjects. Objectives:We recorded the nNO levels in PCD patients in order to use those nNO measurements in the screening and identification of patients with symptoms suggestive of disease PCD disease. Methods:We measured nasal NO in 36 PCD patients (3 uncooperative younger children and 33 cooperative adult patients) and did a nNO re-evaluation after 12 months in patients with higher levels of nNO.Results: Twenty-seven PCD patients showed very low nNO levels (29.1 ppb) and nine cooperative patients had high nNO levels (583.3 ppb, p<0.001) (T0); the PCD patients with high nNO levels were re-evaluated after 12 months (T1).The median T0 and T1 nNO values of the seven PCD patients were 360 ppb and 324 ppb (p=0.0180), respectively; in 6 patients with high levels of nNO the diagnosis of PCD was confirmed by electron microscopy, and in one subject the diagnosis was confirmed for secondary ciliary dyskinesia.Conclusions: Low levels of nNO remain indicative of PCD disease; high levels of nNO are supportive of PCD, but cannot be used to exclude diagnosis.These results suggest that repeated measures are warranted when nNO is occasionally high in patients with symptoms suggestive of PCD disease, and at present electron microscopy is still the only valid evaluation tool in unclear cases of PCD.

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Section: Discussionmentioning

confidence: 99%

Different Levels of Exhaled Nasal Nitric Oxide in Patients Diagnosed with Primary Dyskinesia

Bodini¹,

Peroni²,

Tenero³

et al. 2015

Arch Pulmonol Respir Care

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“…A European survey reported wide variations between management strategies for PCD, highlighting differences between countries and within European regions [87]. The number of patients treated per centre was the most important predictor of choice of management strategy.…”

Section: Management Strategiesmentioning

confidence: 99%

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Rubbo

Lucas

2017

Eur Respir Rev

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Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.

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“…Pasienter som har lav nNO-verdi eller pasienter der det finnes sterk klinisk mistanke om sykdommen, bør henvises til et spesialistsenter for å få diagnosen bekreftet (15). I Norge gjøres dette ved Oslo universitetssykehus, Rikshospitalet, som nylig er blitt godkjent som kompetansetjeneste for primaer ciliedyskinesi.…”

Section: Screening Og Diagnoseunclassified

Primær ciliedyskinesi

Crowley¹

2016

Tidsskriftet

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Narrative oversiktsartikler basert på forfatters egen erfaring og et skjønnsmessig utvalg artikler. Klinisk oversiktPrimaer ciliedyskinesi 128 -30 Suzanne Crowley suzcro@ous-hf.no Lunge-allergi-seksjonen Barneklinikken Oslo universitetssykehus, Rikshospitalet HOVEDBUDSKAP Kronisk våt hoste fra fødselen er vanlig hos pasienter med primaer ciliedyskinesi. Hosten responderer ikke på antibiotikabehandling Alder ved diagnosetidspunktet er ofte høy, og luftveisskade kan da allerede ha oppstått Diagnostisering av primaer ciliedyskinesi er vanskelig og krever spesialistkompetanse

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Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

Cited by 122 publications

References 20 publications

Different Levels of Exhaled Nasal Nitric Oxide in Patients Diagnosed with Primary Dyskinesia

Different Levels of Exhaled Nasal Nitric Oxide in Patients Diagnosed with Primary Dyskinesia

Clinical care for primary ciliary dyskinesia: current challenges and future directions

Primær ciliedyskinesi

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