title: Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis.
abstract: 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 (I2range 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.
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Both authors contributed equally.
authors: Myrofora
authors: M
authors: Goutaki
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland Both authors contributed equally.
authors: Anna Bettina
authors: AB
authors: Meier
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors: Florian S
authors: FS
authors: Halbeisen
authors: PCD Centre, NIHR Southampton Respiratory Biomedical Research Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
authors: Jane S
authors: JS
authors: Lucas
authors: Divisions of Respiratory Medicine and Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
authors: Sharon D
authors: SD
authors: Dell
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors: Elisabeth
authors: E
authors: Maurer
authors: Dept of Pediatrics, University Children's Hospital of Bern, Bern, Switzerland.
authors: Carmen
authors: C
authors: Casaulta
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors: Maja
authors: M
authors: Jurca
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
authors: Ben D
authors: BD
authors: Spycher
authors: Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland claudia.kuehni@ispm.unibe.ch.
authors: Claudia E
authors: CE
authors: Kuehni
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D015995:Prevalence; D011446:Prospective Studies; D012044:Regression Analysis; D012120:Respiration Disorders / Q000150:complications; D012189:Retrospective Studies; D012857:Situs Inversus / Q000150:complications; D016896:Treatment Outcome; D055815:Young Adult