{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T06:48:25Z","timestamp":1791787705418,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T00:00:00Z","timestamp":1791676800000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Objective<\/jats:title>\n                    <jats:p>Primary Ciliary Dyskinesia (PCD) is a genetic disorder associated with recurrent infections and irreversible airway damage. No single diagnostic test exists, necessitating use of a diagnostic algorithm that varies internationally. This retrospective study aimed to describe the clinical characteristics of patients, and algorithm used to diagnose PCD in New South Wales between 2014 and 2024.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective review of patients diagnosed with PCD at Concord Repatriation General Hospital (CRGH) from 2014 to 2024 was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>This study included 52 patients with median age of diagnosis 7.0 years. The diagnostic algorithm consists of nasal nitric oxide (nNO) in patients &gt;\u20095 years, and nasal brushings for high\u2010speed video microscopy (HSVMA), immunofluorescence (IF) and electron microscopy (EM). Whole exome sequencing is not routine and was performed in 33% of the cohort. The diagnosis was confirmed by a multidisciplinary team that considered the test results and clinical phenotype. Non\u2010diagnostic results occurred in 14% (nNO), 15% (HSVMA), 41% (IF) and 30% (EM) of patients eventually diagnosed with PCD or PCD \u201chighly likely\u201d. Cumulatively, 56% of patients had at least one non\u2010diagnostic result. Of the 17 patients who underwent whole exome sequencing with a PCD panel, 41% had diagnostic genetic results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Ciliary studies continue to be the mainstay of PCD diagnosis at CRGH. Although genetic testing is not part of the CRGH diagnostic algorithm, the CRGH algorithm has similar diagnostic performance to the ERS and ATS guidelines.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.71863","type":"journal-article","created":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T06:31:11Z","timestamp":1791786671000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Making the Diagnosis of Primary Ciliary Dyskinesia in Australia"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0404-661X","authenticated-orcid":false,"given":"Michelle","family":"Cai","sequence":"first","affiliation":[{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Frohlich","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health Sydney NSW Australia"},{"name":"Department of Respiratory Medicine Sydney Children's Hospital Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louisa","family":"Owens","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health Sydney NSW Australia"},{"name":"Department of Respiratory Medicine Children's Health Ireland Crumlin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9792-6636","authenticated-orcid":false,"given":"Kate","family":"Hardaker","sequence":"additional","affiliation":[{"name":"Department of Thoracic Medicine Concord Repatriation General Hospital Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8181-9648","authenticated-orcid":false,"given":"Dominic A.","family":"Fitzgerald","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine The Children's Hospital at Westmead Sydney NSW Australia"},{"name":"Discipline of Paediatrics and Child Health, Faculty of Medicine University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6512-3613","authenticated-orcid":false,"given":"Raewyn","family":"Campbell","sequence":"additional","affiliation":[{"name":"Macquarie University Hospital Sydney NSW Australia"},{"name":"Faculty of Medicine University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8600-1009","authenticated-orcid":false,"given":"Bernadette","family":"Prentice","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health Sydney NSW Australia"},{"name":"Department of Respiratory Medicine Sydney Children's Hospital Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Thoracic Medicine Concord Repatriation General Hospital Sydney NSW Australia"},{"name":"Faculty of Medicine University of Sydney Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01551-2015"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00353-2021"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01066-2019"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00745-2025"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22158272"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00725-2019"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242216159"},{"key":"e_1_2_11_12_1","unstructured":"European Respiratory Society. 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