Primary ciliary dyskinesia in Japan: systematic review and meta-analysis

Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). This systematic review and meta-analysis aimed to identify all published studies on clinical manifestations of PCD patients, and to describe their prevalence and severity stratified by age and sex.We searched PubMed, Embase and Scopus for studies describing clinical symptoms of ≥10 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity.We included 52 studies describing a total of 1970 patients (range 10–168 per study). We found a prevalence of 5% for congenital heart disease. For the rest of reported characteristics, we found considerable heterogeneity (I2 range 68–93.8%) when calculating the weighted mean prevalence. Even after taking into account the explanatory factors, the largest part of the between-studies variance in symptom prevalence remained unexplained for all symptoms. Sensitivity analysis including only studies with test-proven diagnosis showed similar results in prevalence and heterogeneity.Large differences in study design, selection of study populations and definition of symptoms could explain the heterogeneity in symptom prevalence. To better characterise the disease, we need larger, multicentre, multidisciplinary, prospective studies that include all age groups, use uniform diagnostics and report on all symptoms.

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Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis

Pediatric Research ◽

10.1038/pr.2016.263 ◽

2016 ◽

Vol 81 (3) ◽

pp. 398-405 ◽

Cited By ~ 21

Author(s):

Panayiotis Kouis ◽

Panayiotis K. Yiallouros ◽

Nicos Middleton ◽

John S. Evans ◽

Kyriacos Kyriacou ◽

...

Keyword(s):

Electron Microscopy ◽

Systematic Review ◽

Transmission Electron Microscopy ◽

Primary Ciliary Dyskinesia ◽

Detection Rate ◽

Meta Analysis ◽

Transmission Electron ◽

Ciliary Dyskinesia

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Prevalence of primary ciliary dyskinesia among patients referred for specialized testing: A systematic review and meta-analysis

10.1183/13993003.congress-2016.pa3126 ◽

2016 ◽

Author(s):

Panayiotis Kouis ◽

Panayiotis Yiallouros ◽

Stefania Papatheodorou

Keyword(s):

Systematic Review ◽

Primary Ciliary Dyskinesia ◽

Meta Analysis ◽

Ciliary Dyskinesia

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Spirometric indices in primary ciliary dyskinesia: systematic review and meta-analysis

ERJ Open Research ◽

10.1183/23120541.00231-2018 ◽

2019 ◽

Vol 5 (2) ◽

pp. 00231-2018 ◽

Cited By ~ 5

Author(s):

Florian S. Halbeisen ◽

Anu Jose ◽

Carmen de Jong ◽

Sylvia Nyilas ◽

Philipp Latzin ◽

...

Keyword(s):

Systematic Review ◽

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Meta Analysis ◽

Forced Expiratory Volume ◽

Chronic Respiratory Diseases ◽

Explanatory Factors ◽

Performance And Evaluation ◽

Meta Analyses ◽

Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic, heterogeneous disease caused by dysfunction of cilia. Evidence is sparse and reports of lung function in PCD patients range from normal to severe impairment. This systematic review and meta-analysis of studies of lung function in PCD patients examines the spirometric indices of PCD patients and differences by age group and sex.We searched PubMed, Embase and Scopus for studies that described lung function in 10 or more patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity. We included 24 studies, ranging from 13 to 158 patients per study.The most commonly reported spirometric indices were forced expiratory volume in 1 s (FEV1) and forced vital capacity presented as mean and standard deviation of percent predicted values. We found considerable heterogeneity for both parameters (I2=94–96%). The heterogeneity remained when we stratified the analysis by age; however, FEV1 in adult patients was lower. Even after taking into account explanatory factors, the largest part of the between-studies variance remained unexplained.Heterogeneity could be explained by genetic differences between study populations, methodological factors related to the variability of study inclusion criteria or details on the performance and evaluation of lung function measurements that we could not account for. Prospective studies therefore need to use standardised protocols and international reference values. These results underline the possibility of distinct PCD phenotypes as in other chronic respiratory diseases. Detailed characterisation of these phenotypes and related genotypes is needed in order to better understand the natural history of PCD.

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Spirometric indices in primary ciliary dyskinesia: systematic review and meta-analysis

10.1101/486837 ◽

2018 ◽

Author(s):

Florian S. Halbeisen ◽

Anu Jose ◽

Carmen de Jong ◽

Sylvia Nyilas ◽

Philipp Latzin ◽

...

Keyword(s):

Systematic Review ◽

Lung Function ◽

Primary Ciliary Dyskinesia ◽

Meta Analysis ◽

Forced Expiratory Volume ◽

Chronic Respiratory Diseases ◽

Explanatory Factors ◽

Performance And Evaluation ◽

Meta Analyses ◽

Ciliary Dyskinesia

AbstractPrimary ciliary dyskinesia (PCD) is a genetic, heterogeneous disease caused by dysfunction of cilia. Evidence is sparse and reports of lung function of PCD patients ranges from normal to severe impairment. This systematic review and meta-analysis of studies of lung function of PCD patients examines the spirometric indices of PCD patients and differences by age group and sex.We searched PubMed, Embase, and Scopus for studies that described lung function in ≥10 patients with PCD. We performed meta-analyses and metaregression to explain heterogeneity. We included 24 studies, ranging from 13-158 patients per study. The most commonly reported spirometric indices were forced expiratory volume in 1 sec (FEV1) and forced vital capacity (FVC) presented as mean and standard deviation of percent of predicted values. We found considerable heterogeneity for both parameters (I2 range 94-96%). The heterogeneity remained when we stratified the analysis by age; however, FEV1 in adult patients was lower. Even after taking into account explanatory factors, the largest part of the between-studies variance remained unexplained. Heterogeneity could be explained by genetic differences between study populations, methodological factors related to the variability of study inclusion criteria, or details on the performance and evaluation of lung function measurements that we could not account for. Prospective studies therefore need to use standardised protocols and international reference values. These results underline the possibility of distinct PCD phenotypes as in other chronic respiratory diseases. Detailed characterisation of these phenotypes and related genotypes is needed in order to better understand the natural history of PCD.

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Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis

European Respiratory Journal ◽

10.1183/09031936.00088614 ◽

2014 ◽

Vol 44 (6) ◽

pp. 1589-1599 ◽

Cited By ~ 57

Author(s):

Samuel A. Collins ◽

Kerry Gove ◽

Woolf Walker ◽

Jane S.A. Lucas

Keyword(s):

Nitric Oxide ◽

Systematic Review ◽

Primary Ciliary Dyskinesia ◽

Weighted Mean Difference ◽

Meta Analysis ◽

Breath Hold ◽

Healthy Controls ◽

Tidal Breathing ◽

Nasal Nitric Oxide ◽

Ciliary Dyskinesia

Nasal nitric oxide (nNO) concentrations are low in patients with primary ciliary dyskinesia (PCD) providing a noninvasive screening test.We conducted a systematic review of the literature to examine the utility of nNO in screening for PCD, in particular 1) different respiratory manoeuvres during sampling (velum closure, tidal breathing, etc.), 2) accuracy in screening young/uncooperative children, 3) stationary versus portable analysers, and 4) nNO in “atypical” PCD.96 papers were assessed according to modified PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) criteria and 22 were included in this review.Meta-analysis of 11 studies comparing nNO during a velum closure breath hold gave a mean±sd nNO of 19.4±18.6 nL·min-1 in PCD (n = 478) and 265.0±118.9 nL·min-1 in healthy controls (n = 338). Weighted mean difference for PCD versus healthy controls was 231.1 nL·min-1 (95% CI 193.3–268.9; n = 338) and 114.1 nL·min-1 (95% CI 101.5–126.8; n = 415) for PCD versus cystic fibrosis. Five studies of nNO measurement during tidal breathing demonstrated that this is an acceptable manoeuvre in young children where velum closure is not possible, but the discriminatory value was reduced. Four small studies of portable NO analysers suggest these are reliable tools for screening for PCD. However, nNO must be interpreted alongside clinical suspicion. Future studies should focus on standardising sampling techniques and reporting.

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