{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:20:43Z","timestamp":1787019643231,"version":"build-2736575974"},"reference-count":57,"publisher":"European Respiratory Society (ERS)","issue":"2","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["ersjournals.com"],"crossmark-restriction":true},"short-container-title":["Breathe"],"accepted":{"date-parts":[[2020,5,7]]},"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is an inherited disorder of clinical and genetic heterogeneity resulting from mutations in genes involved in the transport, assembly and function of motile cilia. The resulting impairment in mucociliary clearance means patients suffer from chronic progressive lung disease, bronchiectasis, rhinosinusitis and middle ear disease. Subfertility is common to both male and female patients. Situs abnormalities occur in around half of patients, with a subgroup suffering more complex situs arrangements where congenital heart defects or other organ abnormalities frequently coexist. Variations from the classical PCD phenotype are increasingly recognised where overlapping features across a range of motile and nonmotile ciliopathies are redefining our approach to both diagnosis and management of these complex conditions. PCD offers an ideal opportunity for direct visualisation of ciliary function and structure, following nasal brush biopsy, allowing opportunities for researchers to directly interrogate the downstream impact of loss of function mutations. In turn, this has led to rapid advances in the development of new diagnostic tests. These advances mean that PCD is an excellent disease model for understanding the genetic and mechanistic causes of the clinical phenotype for all respiratory ciliopathies. Furthermore, the overlapping role of motile ciliary defects in a wider set of complex and syndromic disorders related to loss of function mutations in primary, nonmotile cilia has been recognised. As we better understand the role of ciliary defects in a broad spectrum of diseases, we should aim to map out a framework through which we can identify, diagnose and treat all respiratory ciliopathies.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Key points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Primary ciliary dyskinesia is just one of a group of conditions where a heterogeneous array of genetic mutations affect the assembly or structure of motile cilia.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Overlapping phenotypes between motile and nonmotile ciliopathies are redefining the diagnostic and therapeutic approach to encompass all ciliopathy patients with a respiratory phenotype.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>An extended diagnostic algorithm may be required to capture the majority of cases with a respiratory ciliopathy, including patients with syndromic ciliopathies.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>The terminology around disorders of motile cilia is becoming more descriptive to better reflect the heterogeneity and underlying disease mechanisms across the spectrum of respiratory ciliopathies.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Educational aims<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>To summarise the existing knowledge base around the disease mechanisms for respiratory ciliopathies, including primary ciliary dyskinesia (PCD).<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>To explore and understand the reasons for changing terminology around respiratory ciliopathies.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>To emphasise key messages around the diagnosis and treatment of all ciliopathies.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Diagnosing PCD is complex and time consuming, and there is no single stand-alone test that can confirm or exclude a diagnosis in all cases.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1183\/20734735.0047-2020","type":"journal-article","created":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T09:40:13Z","timestamp":1601026813000},"page":"200047","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":23,"title":["Primary ciliary dyskinesia: a\u00a0major player in a bigger game"],"prefix":"10.1183","volume":"16","author":[{"given":"Reena","family":"Bhatt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2020,9,25]]},"reference":[{"key":"2024101703503708000_16.2.200047.1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"2024101703503708000_16.2.200047.2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124534"},{"key":"2024101703503708000_16.2.200047.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.21"},{"key":"2024101703503708000_16.2.200047.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"2024101703503708000_16.2.200047.5","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2774"},{"key":"2024101703503708000_16.2.200047.6","doi-asserted-by":"publisher","DOI":"10.1002\/path.4843"},{"key":"2024101703503708000_16.2.200047.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2014.08.047"},{"key":"2024101703503708000_16.2.200047.8","doi-asserted-by":"publisher","DOI":"10.1186\/s13630-014-0010-9"},{"key":"2024101703503708000_16.2.200047.9","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a53562"},{"key":"2024101703503708000_16.2.200047.10","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1080\/01913123.2017.1370050","article-title":"Motile cilia defects in diseases other than primary ciliary dyskinesia: the contemporary diagnostic and research role for transmission electron microscopy","volume":"41","author":"Mitchison","year":"2017","journal-title":"Ultrastruct Path"},{"key":"2024101703503708000_16.2.200047.11","doi-asserted-by":"publisher","DOI":"10.1186\/gm275"},{"key":"2024101703503708000_16.2.200047.12","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1097\/MOP.0000000000000358","article-title":"The evolving spectrum of ciliopathies and respiratory disease","volume":"28","author":"Milla","year":"2016","journal-title":"Curr Opin Pediatr"},{"key":"2024101703503708000_16.2.200047.13","doi-asserted-by":"publisher","DOI":"10.1126\/science.1173869"},{"key":"2024101703503708000_16.2.200047.14","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.066308"},{"key":"2024101703503708000_16.2.200047.15","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-2913"},{"key":"2024101703503708000_16.2.200047.16","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ppul.22632","article-title":"RPGR mutations might cause reduced orientation of respiratory cilia","volume":"48","author":"Bukowy-Bieryllo","year":"2013","journal-title":"Pediat Pulmonol"},{"key":"2024101703503708000_16.2.200047.17","doi-asserted-by":"crossref","first-page":"e93674","DOI":"10.1371\/journal.pone.0093674","article-title":"Radiologic and clinical bronchiectasis associated with autosomal dominant polycystic kidney disease","volume":"18","author":"Moua","year":"2014","journal-title":"PLoS One"},{"key":"2024101703503708000_16.2.200047.18","doi-asserted-by":"publisher","DOI":"10.1378\/chest.07-2147"},{"key":"2024101703503708000_16.2.200047.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.022"},{"key":"2024101703503708000_16.2.200047.20","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1378\/chest.14-0722","article-title":"Primary ciliary dyskinesia and the heart: cilia breaking symmetry","volume":"146","author":"Kennedy","year":"2014","journal-title":"CHEST"},{"key":"2024101703503708000_16.2.200047.21","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2018-212104"},{"key":"2024101703503708000_16.2.200047.22","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1164\/rccm.201607-1351OC","article-title":"Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia","volume":"196","author":"Shoemark","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"2024101703503708000_16.2.200047.23","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2012-202938"},{"key":"2024101703503708000_16.2.200047.24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ajhg.2019.12.010","article-title":"TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella","volume":"106","author":"Thomas","year":"2020","journal-title":"Am J Hum Gene"},{"key":"2024101703503708000_16.2.200047.25","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0089675"},{"key":"2024101703503708000_16.2.200047.26","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"2024101703503708000_16.2.200047.27","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00176608"},{"key":"2024101703503708000_16.2.200047.28","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"2024101703503708000_16.2.200047.29","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01066-2019"},{"key":"2024101703503708000_16.2.200047.30","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01551-2015"},{"key":"2024101703503708000_16.2.200047.31","first-page":"1184","article-title":"Accuracy of nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia. A systematic review and meta-analysis","volume":"14","author":"Shapiro","year":"2017","journal-title":"Ann Am Thorac Soc"},{"key":"2024101703503708000_16.2.200047.32","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1002\/ppul.1950050406","article-title":"The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia","volume":"5","author":"Canciani","year":"1988","journal-title":"Pediatr Pulm"},{"key":"2024101703503708000_16.2.200047.33","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0054583"},{"key":"2024101703503708000_16.2.200047.34","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2017-209999"},{"key":"2024101703503708000_16.2.200047.35","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2466-14-18"},{"key":"2024101703503708000_16.2.200047.36","doi-asserted-by":"crossref","first-page":"A594","DOI":"10.1016\/j.chest.2017.08.625","article-title":"The NIOX VERO differentiates primary ciliary dyskinesia from healthy children using nasal nitric oxide measurements","volume":"152","author":"Rickard","year":"2017","journal-title":"CHEST"},{"key":"2024101703503708000_16.2.200047.37","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.chest.2019.01.036","article-title":"Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia","volume":"155","author":"Rubbo","year":"2019","journal-title":"Chest"},{"key":"2024101703503708000_16.2.200047.38","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00749-2015"},{"key":"2024101703503708000_16.2.200047.39","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(08)91007-4"},{"key":"2024101703503708000_16.2.200047.40","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.016"},{"key":"2024101703503708000_16.2.200047.41","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01809-2017"},{"key":"2024101703503708000_16.2.200047.42","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","article-title":"Primary ciliary dyskinesia in the genomics age","volume":"8","author":"Lucas","year":"2019","journal-title":"Lancet Respir Med"},{"key":"2024101703503708000_16.2.200047.43","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/s10038-019-0686-1","article-title":"Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia","volume":"65","author":"Bustamante-Marin","year":"2020","journal-title":"J Hum Genet"},{"key":"2024101703503708000_16.2.200047.44","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/j.ajhg.2018.03.024","article-title":"C11orf70 mutations disrupting the intraflagellar transport-dependent assembly of multiple axonemal dyneins cause primary ciliary dyskinesia","volume":"102","author":"Fassad","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2024101703503708000_16.2.200047.45","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00314-2017"},{"key":"2024101703503708000_16.2.200047.46","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5418"},{"key":"2024101703503708000_16.2.200047.47","doi-asserted-by":"publisher","DOI":"10.1038\/ng817"},{"key":"2024101703503708000_16.2.200047.48","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.020"},{"key":"2024101703503708000_16.2.200047.49","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.011"},{"key":"2024101703503708000_16.2.200047.50","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2533"},{"key":"2024101703503708000_16.2.200047.51","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1007\/s00018-019-03389-7","article-title":"Sperm defects in primary ciliary dyskinesia and related causes of male infertility","volume":"77","author":"Sironen","year":"2020","journal-title":"Cell Mol Life Sci"},{"key":"2024101703503708000_16.2.200047.52","doi-asserted-by":"crossref","first-page":"67","DOI":"10.2147\/TACG.S127129","article-title":"Primary ciliary dyskinesia: mechanisms and management","volume":"10","author":"Damseh","year":"2017","journal-title":"Appl Clin Genet"},{"key":"2024101703503708000_16.2.200047.53","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S2213-2600(20)30058-8","article-title":"Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial","volume":"8","author":"Kobbernagel","year":"2020","journal-title":"Lancet Respir Med"},{"key":"2024101703503708000_16.2.200047.54","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/j.cmi.2015.08.020","article-title":"A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia","volume":"21","author":"Alanin","year":"2015","journal-title":"Clin Microbiol Infect"},{"key":"2024101703503708000_16.2.200047.55","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1186\/s12890-016-0261-x","article-title":"Study protocol rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6\u2005months in primary ciliary dyskinesia","volume":"16","author":"Kobbernagel","year":"2016","journal-title":"BMC Pulm Med"},{"key":"2024101703503708000_16.2.200047.56","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02514-2016"},{"key":"2024101703503708000_16.2.200047.57","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01770-2016"}],"container-title":["Breathe"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/20734735.0047-2020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T07:30:43Z","timestamp":1729150243000},"score":1,"resource":{"primary":{"URL":"http:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/20734735.0047-2020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":57,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,9,25]]},"published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1183\/20734735.0047-2020"],"URL":"https:\/\/doi.org\/10.1183\/20734735.0047-2020","relation":{},"ISSN":["1810-6838","2073-4735"],"issn-type":[{"value":"1810-6838","type":"print"},{"value":"2073-4735","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6]]}}}