{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T22:25:56Z","timestamp":1793744756965,"version":"4.6.1"},"reference-count":96,"publisher":"European Respiratory Society (ERS)","issue":"4","funder":[{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["35404"],"award-info":[{"award-number":["35404"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["PDFMP3 137033"],"award-info":[{"award-number":["PDFMP3 137033"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["PZ00P3_147987"],"award-info":[{"award-number":["PZ00P3_147987"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2016,5,24]]},"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>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.<\/jats:p>\n                  <jats:p>We searched PubMed, Embase and Scopus for studies describing clinical symptoms of \u226510 patients with PCD. We performed meta-analyses and meta-regression to explain heterogeneity.<\/jats:p>\n                  <jats:p>\n                    We included 52 studies describing a total of 1970 patients (range 10\u2013168 per study). We found a prevalence of 5% for congenital heart disease. For the rest of reported characteristics, we found considerable heterogeneity (I\n                    <jats:sup>2<\/jats:sup>\n                    range 68\u201393.8%) 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.\n                  <\/jats:p>\n                  <jats:p>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.<\/jats:p>","DOI":"10.1183\/13993003.00736-2016","type":"journal-article","created":{"date-parts":[[2016,8,4]],"date-time":"2016-08-04T22:43:31Z","timestamp":1470350611000},"page":"1081-1095","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":237,"title":["Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis"],"prefix":"10.1183","volume":"48","author":[{"given":"Myrofora","family":"Goutaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Bettina","family":"Meier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian S.","family":"Halbeisen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane S.","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon D.","family":"Dell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Maurer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Casaulta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Jurca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben D.","family":"Spycher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia E.","family":"Kuehni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2016,8,4]]},"reference":[{"key":"2024102100093799000_48.4.1081.1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00176608"},{"key":"2024102100093799000_48.4.1081.2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200303-365OC"},{"key":"2024102100093799000_48.4.1081.3","doi-asserted-by":"crossref","unstructured":"Lucas JS , Walker WT , Kuehni CE , et al. Primary ciliary dyskinesia. In : Courdier J-F , ed. Orphan Lung Diseases. Eur Respir Monogr 2011; 54: 201\u2013217.","DOI":"10.1183\/1025448x.10008310"},{"key":"2024102100093799000_48.4.1081.4","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1542\/peds.67.6.805","article-title":"Clinical expressions of immotile cilia syndrome","volume":"67","author":"Turner","year":"1981","journal-title":"Pediatrics"},{"key":"2024102100093799000_48.4.1081.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-012-1785-6"},{"key":"2024102100093799000_48.4.1081.6","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00001010"},{"key":"2024102100093799000_48.4.1081.7","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00073911"},{"key":"2024102100093799000_48.4.1081.8","doi-asserted-by":"publisher","DOI":"10.2307\/2682942"},{"key":"2024102100093799000_48.4.1081.9","doi-asserted-by":"crossref","unstructured":"Freeman MF , Tukey JW . Transformations related to the angular and the square root. Ann Math Stat 1950; 607\u2013611.","DOI":"10.1214\/aoms\/1177729756"},{"key":"2024102100093799000_48.4.1081.10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1467-985X.2008.00552.x"},{"key":"2024102100093799000_48.4.1081.11","doi-asserted-by":"publisher","DOI":"10.1002\/sim.1186"},{"key":"2024102100093799000_48.4.1081.12","first-page":"302","article-title":"Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease","volume":"126","author":"Chao","year":"1982","journal-title":"Am Rev Respir Dis"},{"key":"2024102100093799000_48.4.1081.13","first-page":"102","article-title":"Pathophysiology of the ciliary motility syndromes","volume":"127","author":"Levison","year":"1983","journal-title":"Eur J Respir Dis Suppl"},{"key":"2024102100093799000_48.4.1081.14","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.154.3.3969467"},{"key":"2024102100093799000_48.4.1081.15","doi-asserted-by":"publisher","DOI":"10.3109\/00016488309139463"},{"key":"2024102100093799000_48.4.1081.16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2273.1982.tb01400.x"},{"key":"2024102100093799000_48.4.1081.17","first-page":"109","article-title":"Immotile cilia syndrome: nasal mucociliary function and nasal ciliary abnormalities","volume":"32","author":"Armengot","year":"1994","journal-title":"Rhinology"},{"key":"2024102100093799000_48.4.1081.18","doi-asserted-by":"publisher","DOI":"10.1080\/01913120490897538"},{"key":"2024102100093799000_48.4.1081.19","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1157\/13070275","article-title":"Estudio del transporte mucociliar y de la ultraestructura ciliar nasales en pacientes con sindrome de Kartagener. [Study of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome]","volume":"41","author":"Armengot Carceller","year":"2005","journal-title":"Arch Bronconeumol"},{"key":"2024102100093799000_48.4.1081.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-2896(15)31145-5"},{"key":"2024102100093799000_48.4.1081.21","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23026"},{"key":"2024102100093799000_48.4.1081.22","doi-asserted-by":"publisher","DOI":"10.1111\/resp.12273"},{"key":"2024102100093799000_48.4.1081.23","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0119-5"},{"key":"2024102100093799000_48.4.1081.24","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22861"},{"key":"2024102100093799000_48.4.1081.25","first-page":"75","article-title":"Rhinosinusitis, symptomatology & absence of polyposis in children with primary ciliary dyskinesia","volume":"47","author":"Rollin","year":"2009","journal-title":"Rhinology"},{"key":"2024102100093799000_48.4.1081.26","doi-asserted-by":"publisher","DOI":"10.1080\/080352502760069089"},{"key":"2024102100093799000_48.4.1081.27","doi-asserted-by":"publisher","DOI":"10.1136\/thx.49.7.684"},{"key":"2024102100093799000_48.4.1081.28","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100098042"},{"key":"2024102100093799000_48.4.1081.29","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.1950160103"},{"key":"2024102100093799000_48.4.1081.30","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2010.183"},{"key":"2024102100093799000_48.4.1081.31","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100867"},{"key":"2024102100093799000_48.4.1081.32","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.5.e86"},{"key":"2024102100093799000_48.4.1081.33","first-page":"A1213","article-title":"Characteristics of primary ciliary dyskinesia in children under 5\u2005years of age","volume":"183","author":"Pittman","year":"2011","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102100093799000_48.4.1081.34","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.01.061"},{"key":"2024102100093799000_48.4.1081.35","first-page":"A6728","article-title":"Clinical symptoms associated with primary ciliary dyskinesia: results of a multi-centered study","volume":"181","author":"Shapiro","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102100093799000_48.4.1081.36","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951114000912"},{"key":"2024102100093799000_48.4.1081.37","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201311-2047OC"},{"key":"2024102100093799000_48.4.1081.38","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201306-194OC"},{"key":"2024102100093799000_48.4.1081.39","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2014.03.009"},{"key":"2024102100093799000_48.4.1081.40","first-page":"91","article-title":"Kartagener's syndrome: clinical symptoms and laboratory studies","volume":"127","author":"van der Baan","year":"1983","journal-title":"Eur J Respir Dis Suppl"},{"key":"2024102100093799000_48.4.1081.41","first-page":"118","article-title":"Bronchopulmonary symptoms in primary ciliary dyskinesia. A clinical study of 27 patients","volume":"127","author":"Pedersen","year":"1983","journal-title":"Eur J Respir Dis Suppl"},{"key":"2024102100093799000_48.4.1081.42","first-page":"96","article-title":"Nose-, sinus- and ear-symptoms in 27 patients with primary ciliary dyskinesia","volume":"127","author":"Mygind","year":"1983","journal-title":"Eur J Respir Dis Suppl"},{"key":"2024102100093799000_48.4.1081.43","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2466-3-4"},{"key":"2024102100093799000_48.4.1081.44","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2007.04.015"},{"key":"2024102100093799000_48.4.1081.45","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-1704"},{"key":"2024102100093799000_48.4.1081.46","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201409-1672OC"},{"key":"2024102100093799000_48.4.1081.47","first-page":"144","article-title":"Male and female infertility problems in the immotile-cilia syndrome","volume":"127","author":"Afzelius","year":"1983","journal-title":"Eur J Respir Dis Suppl"},{"key":"2024102100093799000_48.4.1081.48","first-page":"24","article-title":"Significance of fractional exhaled nitric oxide measurements in detecting primary ciliary dyskinesia in Saudi children","volume":"34","author":"Alsaadi","year":"2013","journal-title":"Saudi Med J"},{"key":"2024102100093799000_48.4.1081.49","doi-asserted-by":"publisher","DOI":"10.1016\/j.otorri.2011.07.001"},{"key":"2024102100093799000_48.4.1081.50","first-page":"85","article-title":"Prevalencia del sindrome de discinesia ciliar primaria en pacientes con sinusitis y bronquiectasias. [The prevalence of primary dyskinetic ciliary syndromes in patients with sinusitis and bronchiectasis]","volume":"22","author":"Armengot","year":"1995","journal-title":"An Otorrinolaringol Ibero Am"},{"key":"2024102100093799000_48.4.1081.51","first-page":"115","article-title":"Primaire ciliaire dyskinesie; een enquete-onderzoek naar het klinische beeld. [Clinical characteristics of primary ciliary dyskinesia]","volume":"49","author":"Bai","year":"2014","journal-title":"Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"2024102100093799000_48.4.1081.52","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.1950100104"},{"key":"2024102100093799000_48.4.1081.53","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmr.2011.02.014"},{"key":"2024102100093799000_48.4.1081.54","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-438X(05)82326-6"},{"key":"2024102100093799000_48.4.1081.55","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.arbres.2012.10.007","article-title":"Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies","volume":"49","author":"Busquets","year":"2013","journal-title":"Arch Bronconeumol"},{"key":"2024102100093799000_48.4.1081.56","first-page":"57","article-title":"Measurements of tracheobronchial clearance in patients with immotile-cilia syndrome and its value in differential diagnosis","volume":"127","author":"Camner","year":"1983","journal-title":"Eur J Respir Dis Suppl"},{"key":"2024102100093799000_48.4.1081.57","first-page":"2338","article-title":"Primaire ciliare dykinesie; een enquete-onderzoek naar het klinische beeld. [Primary","volume":"133","author":"de Boode","year":"1989","journal-title":"Ned Tijdschr Geneeskd"},{"key":"2024102100093799000_48.4.1081.58","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2273.1997.00895.x"},{"key":"2024102100093799000_48.4.1081.59","first-page":"150","article-title":"Clinical profile of eleven patients of Kartagener's syndrome \u2013 certain interesting associations","volume":"29","author":"Goyal","year":"1987","journal-title":"Indian J Chest Dis Allied Sci"},{"key":"2024102100093799000_48.4.1081.60","first-page":"405","article-title":"Primary ciliary dyskinesia: cytological and clinical features","volume":"67","author":"Greenstone","year":"1988","journal-title":"Q J Med"},{"key":"2024102100093799000_48.4.1081.61","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050843"},{"key":"2024102100093799000_48.4.1081.62","doi-asserted-by":"publisher","DOI":"10.1007\/PL00008354"},{"key":"2024102100093799000_48.4.1081.63","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.4067\/S0034-98872007000900008","article-title":"Disquinesia ciliar: diagn\u00f3stico ultraestructural, evoluci\u00f3n cl\u00ednica y alternativas de tratamiento","volume":"135","author":"I\u00f1iguez","year":"2007","journal-title":"Rev Med Chil"},{"key":"2024102100093799000_48.4.1081.64","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.35.617"},{"key":"2024102100093799000_48.4.1081.65","first-page":"2294","article-title":"V\u00e4rekarvojen synnynn\u00e4iset toimintah\u00e4iri\u00f6t lapsilla","volume":"127","author":"Korppi","year":"2011","journal-title":"Duodecim"},{"key":"2024102100093799000_48.4.1081.66","doi-asserted-by":"publisher","DOI":"10.1007\/s00508-009-1197-4"},{"key":"2024102100093799000_48.4.1081.67","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200811-1731OC"},{"key":"2024102100093799000_48.4.1081.68","first-page":"189","article-title":"Primary ciliary dyskinesia: ultrastructural defects and clinical features","volume":"33","author":"Min","year":"1995","journal-title":"Rhinology"},{"key":"2024102100093799000_48.4.1081.69","doi-asserted-by":"publisher","DOI":"10.1186\/1824-7288-35-24"},{"key":"2024102100093799000_48.4.1081.70","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2009.158493"},{"key":"2024102100093799000_48.4.1081.71","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22710"},{"key":"2024102100093799000_48.4.1081.72","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00629.2010"},{"key":"2024102100093799000_48.4.1081.73","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00051509"},{"key":"2024102100093799000_48.4.1081.74","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.5858\/132.11.1786","article-title":"Ultrastructural abnormalities of respiratory cilia: a 25-year experience","volume":"132","author":"Plesec","year":"2008","journal-title":"Arch Pathol Lab Med"},{"key":"2024102100093799000_48.4.1081.75","unstructured":"Rachinski\u012d SV , Volkov IK , Sereda EV , et al. [The Zivert-Kartagener syndrome in children]. Probl Tuberk 1993: 19\u201322."},{"key":"2024102100093799000_48.4.1081.76","first-page":"705","article-title":"Klinik der prim\u00e4ren zili\u00e4ren Dyskinesie. [Clinical features of primary ciliary dyskinesia]","volume":"130","author":"Rutishauser","year":"2000","journal-title":"Schweiz Med Wochenschr"},{"key":"2024102100093799000_48.4.1081.77","doi-asserted-by":"publisher","DOI":"10.1378\/chest.109.6.1541"},{"key":"2024102100093799000_48.4.1081.78","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-010-1341-9"},{"key":"2024102100093799000_48.4.1081.79","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250117"},{"key":"2024102100093799000_48.4.1081.80","first-page":"167","article-title":"Zeitschrift f\u00fcr Erkrankungen der Atmungsorgane. [Bronchiectasis in patients with situs inversus viscerum (Kartagener syndrome) (author's transl)]","volume":"156","author":"Tolusakow","year":"1981","journal-title":"Z Erkr Atmungsorgane"},{"key":"2024102100093799000_48.4.1081.81","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-1996-5"},{"key":"2024102100093799000_48.4.1081.82","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1288\/00005537-199107000-00010","article-title":"Primary ciliary dyskinesia and the middle ear","volume":"101","author":"van der Baan","year":"1991","journal-title":"Laryngoscope"},{"key":"2024102100093799000_48.4.1081.83","first-page":"2040","article-title":"Bronchiolitis in Kartagener syndrome: imaging diagnosis and following up","volume":"25","author":"Wang","year":"2009","journal-title":"Chin J Med Imag Technol"},{"key":"2024102100093799000_48.4.1081.84","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.07.011"},{"key":"2024102100093799000_48.4.1081.85","first-page":"618","article-title":"[Clinical characteristics of primary ciliary dyskinesia in children]","volume":"46","author":"Xu","year":"2008","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"2024102100093799000_48.4.1081.86","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2015.01.015"},{"key":"2024102100093799000_48.4.1081.87","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-0808"},{"key":"2024102100093799000_48.4.1081.88","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-11"},{"key":"2024102100093799000_48.4.1081.89","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.128.11.1292"},{"key":"2024102100093799000_48.4.1081.90","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1111\/jpc.12628","article-title":"Primary ciliary dyskinesia: overlooked and undertreated in children","volume":"50","author":"Hosie","year":"2014","journal-title":"J Paediatr Child Health"},{"key":"2024102100093799000_48.4.1081.91","first-page":"A3320","article-title":"A cross-sectional analysis of children treated for primary ciliary dyskinesia at Birmingham Children's Hospital","volume":"181","author":"Enderby","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102100093799000_48.4.1081.92","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2002.37042"},{"key":"2024102100093799000_48.4.1081.93","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.96.09112207"},{"key":"2024102100093799000_48.4.1081.94","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2222.2010.03541.x"},{"key":"2024102100093799000_48.4.1081.95","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2012.06.002"},{"key":"2024102100093799000_48.4.1081.96","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00776-2015"}],"container-title":["European Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/13993003.00736-2016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T01:35:42Z","timestamp":1740360942000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/13993003.00736-2016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,4]]},"references-count":96,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,9,30]]},"published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1183\/13993003.00736-2016"],"URL":"https:\/\/doi.org\/10.1183\/13993003.00736-2016","relation":{},"ISSN":["0903-1936","1399-3003"],"issn-type":[{"value":"0903-1936","type":"print"},{"value":"1399-3003","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,4]]}}}