Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis.

Goutaki, Myrofora; Meier, Anna Bettina; Halbeisen, Florian; Lucas, Jane S; Dell, Sharon D; Maurer, Elisabeth; Casaulta, Carmen; Jurca, Maja; Spycher, Ben; Kuehni, Claudia E (2016). Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. European respiratory journal, 48(4), pp. 1081-1095. European Respiratory Society 10.1183/13993003.00736-2016

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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 (I(2) 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.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Pneumologie (Pädiatrie)
04 Faculty of Medicine > Service Sector > Institute of Legal Medicine > Forensic Medicine

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Goutaki, Myrofora, Meier, Anna Bettina, Halbeisen, Florian Samuel, Maurer Schild, Elisabeth, Casaulta, Carmen, Jurca, Maja, Spycher, Ben, Kühni, Claudia


600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services




European Respiratory Society




Anette van Dorland

Date Deposited:

23 Mar 2017 11:41

Last Modified:

02 Mar 2023 23:28

Publisher DOI:


PubMed ID:





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