European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Lucas, Jane S.; Barbato, Angelo; Collins, Samuel A.; Goutaki, Myrofora; Behan, Laura; Caudri, Daan; Dell, Sharon D.; Eber, Ernst; Escudier, Estelle; Hirst, Robert A.; Hogg, Claire; Jorissen, Mark; Latzin, Philipp; Legendre, M.; Leigh, Margaret W.; Midulla, Fabio; Nielsen, Kim G.; Omran, Heymut; Papon, Jean‐François; Pohunek, Petr; Redfern, Beatrice; Rigau, David; Rindlisbacher, Bernhard; Santamaria, Francesca; Shoemark, Amelia; Snijders, Deborah; Tonia, Thomy; Titieni, Andrea; Walker, Woolf T.; Werner, Claudius; Bush, Andrew; Kuehni, Claudia E.

doi:10.1183/13993003.01090-2016

Cited by 507 publications

(708 citation statements)

References 116 publications

Supporting

Mentioning

656

Contrasting

Unclassified

Order By: Relevance

“…TEM was once the "gold standard" for PCD diagnosis. However, it is now known that 15-20% of PCD cases have disease-causative mutations but normal ultrastructure by TEM [30,39,[41][42][43]. A quantitative approach to cilia evaluation is recommended, but there is no agreement on the minimal number of cilia scored or on the terminology used for ultrastructural defects.…”

Section: Standardising Reporting On Diagnostic Testingmentioning

confidence: 99%

“…The ERS guidelines argue that nNO should not be used in isolation or as a general screening test, as it would perform poorly in populations with low prevalence of PCD (e.g. primary and secondary care settings) [36], but instead should contribute to the final diagnostic decision [30].…”

Section: Standardising Reporting On Diagnostic Testingmentioning

confidence: 99%

“…Although advances have been made to standardise the diagnostic pathway [30], improvements are needed on the conduct and reporting of results from diagnostic tests. Cut-off values vary considerably between centres, as they depend on local expertise, equipment, techniques, and laboratory and sample conditions [34].…”

Section: Standardising Reporting On Diagnostic Testingmentioning

confidence: 99%

“…The recently published ERS guidelines provide evidence-based recommendations on PCD diagnosis and offer an algorithm for diagnostic testing, which should be based on clinical symptoms, nasal nitric oxide (nNO) assessment, high-speed video microscopy analysis (HSVMA), transmission electron microscopy (TEM) and genotyping [30]. Importantly, the guidelines provide a hierarchal classification to determine diagnostic certainty based on tests performed and results (figure 1) [30]. Asserting the diagnostic certainty is important to ensure correct enrolment of confirmed cases in prospective cohorts and randomised clinical trials (RCTs).…”

Section: Pcd Diagnosismentioning

confidence: 99%

“…The recently published European Respiratory Society (ERS) guidelines for the diagnosis of PCD provide recommendations on patient referrals [30]. Simple and easy-to-use predictive tools that provide disease probability scores, such as PICADAR (PrImary CiliARy DyskinesiA Rule) [3], and expert-defined clinical symptoms scores [10] will probably improve referrals from secondary care but require validation in different settings [26].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

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

Rubbo

Lucas

2017

Eur Respir Rev

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Standardising Reporting On Diagnostic Testingmentioning

confidence: 99%

Section: Standardising Reporting On Diagnostic Testingmentioning

confidence: 99%

Section: Standardising Reporting On Diagnostic Testingmentioning

confidence: 99%

Section: Pcd Diagnosismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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

Rubbo

Lucas

2017

Eur Respir Rev

Self Cite

View full text Add to dashboard Cite

show abstract

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia

Dunsky

Menezes

Ferkol

2021

JAMA Otolaryngol Head Neck Surg

View full text Add to dashboard Cite

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.

show abstract

Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia

Goutaki

Lam

Alexandru

et al. 2023

JAMA Otolaryngol Head Neck Surg

Self Cite

View full text Add to dashboard Cite

ImportanceOtologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity.ObjectiveTo characterize otologic disease among participants with PCD using data from the Ear-Nose-Throat Prospective International Cohort.Design, Setting, and ParticipantsThis cross-sectional analysis of baseline cohort data from February 2020 through July 2022 included participants from 12 specialized centers in 10 countries. Children and adults with PCD diagnoses; routine ear, nose, and throat examinations; and completed symptom questionnaires at the same visit or within 2 weeks were prospectively included.ExposuresPotential risk factors associated with increased risk of ear disease.Main Outcomes and MeasuresThe prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations, including potential factors associated with increased risk of ear inflammation and hearing impairment.ResultsA total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72.4] years; 186 (47%) female). Of the included participants, 204 (51%) reported ear pain, 110 (28%) reported ear discharge, and 183 (46%) reported hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion—usually bilateral—was the most common otoscopic finding among 121 of 384 (32%) participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed for 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed for 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems associated with ear inflammation (autumn vs spring: odds ratio, 2.40; 95% CI, 1.51-3.81) and age 30 years and older for hearing impairment (41-50 years vs ≤10 years: odds ratio, 3.33; 95% CI, 1.12-9.91).Conclusion and RelevanceIn this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.

show abstract

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Cited by 507 publications

References 116 publications

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

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

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia

Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia

Contact Info

Product

Resources

About