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 (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.
Abstract
Review of the clinical manifestations of PCD found between-study variation; large prospective studies needed http://ow.ly/Y5GC300Sw73
Footnotes
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Support statement: Primary ciliary dyskinesia (PCD) research at the Institute of Social and Preventive Medicine Bern and University Hospital Southampton receives funding from the European Union's Seventh Framework Programme under EG-GA No. 35404 BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia). The researchers participate in the network of COST Action BEAT-PCD (Better Evidence to Advance Therapeutic Options for PCD) (BM 1407). M. Goutaki, J.S. Lucas and C.E. Kuehni are members of the European Respiratory Society PCD taskforce for PCD diagnostics (ERS TF-2014-04). B.D. Spycher is supported by a Swiss National Science Foundation fellowship (PZ00P3_147987). M. Jurca is supported by a Swiss National Science Foundation grant (PDFMP3 137033). Sharon D. Dell is funded by grant support U54HL096458 from the National Institutes of Health (NIH) through the Genetic Disorders of Mucociliary Clearance Consortium, an initiative of the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science and the National Heart, Lung and Blood Institute. Funding information for this article has been deposited with the Open Funder Registry.
Conflict of interest: None declared.
- Received November 19, 2015.
- Accepted May 24, 2016.
- Copyright ©ERS 2016