{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T02:08:53Z","timestamp":1761962933514,"version":"build-2065373602"},"reference-count":23,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Foundation for Science and Technology (FCT) Portugal","award":["UIDB\/00215\/2020","UIDP\/00215\/2020","LA\/P\/0064\/2020"],"award-info":[{"award-number":["UIDB\/00215\/2020","UIDP\/00215\/2020","LA\/P\/0064\/2020"]}]},{"name":"ITR-Laboratory for Integrative and Translational Research in Population Health","award":["UIDB\/00215\/2020","UIDP\/00215\/2020","LA\/P\/0064\/2020"],"award-info":[{"award-number":["UIDB\/00215\/2020","UIDP\/00215\/2020","LA\/P\/0064\/2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, making diagnosis a challenging process. The purpose of this study is to describe the clinical and pathological features of Portuguese patients with PCD and to examine their genetic variants. A retrospective observational analysis was conducted with patients who were being monitored at a bronchiectasis outpatient clinic in 2022 and had a confirmed or high-likelihood diagnosis of PCD. In total, 17 patients were included in the study, with 12 (66.7%) having PCD confirmed and 5 (29.4%) having a high-likelihood diagnosis. Furthermore, 12 patients were subjected to transmission electron microscopy (TEM), with 7 (58.3%) exhibiting one hallmark defect. Genetic test data was obtained for all 17 patients, with 7 of them (41.2%) displaying a pathogenic\/likely pathogenic mutation in homozygosity. To summarize, PCD is an uncommon but significant hereditary illness with consequences regarding morbidity and mortality. Despite the lack of a specific treatment, it is critical to confirm the diagnosis with genetic testing in order to effectively manage the disease and its accompanying disorders.<\/jats:p>","DOI":"10.3390\/genes14030541","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T03:59:16Z","timestamp":1677038356000},"page":"541","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic"],"prefix":"10.3390","volume":"14","author":[{"given":"Eduarda Milheiro","family":"Tinoco","sequence":"first","affiliation":[{"name":"Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia\/Espinho (CHVNG\/E), 4434-502 Vila Nova de Gaia, Portugal"},{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7670-048X","authenticated-orcid":false,"given":"Ana Rita","family":"Gigante","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia\/Espinho (CHVNG\/E), 4434-502 Vila Nova de Gaia, Portugal"}]},{"given":"Edite","family":"Ferreira","sequence":"additional","affiliation":[{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"},{"name":"Department of Otorhinolaryngology, Centro Hospitalar de Vila Nova de Gaia\/Espinho (CHVNG\/E), 4434-502 Vila Nova de Gaia, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1664-1297","authenticated-orcid":false,"given":"In\u00eas","family":"Sanches","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia\/Espinho (CHVNG\/E), 4434-502 Vila Nova de Gaia, Portugal"},{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8434-5086","authenticated-orcid":false,"given":"Rute","family":"Pereira","sequence":"additional","affiliation":[{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"},{"name":"Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, 4050-313 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6551-3822","authenticated-orcid":false,"given":"Ros\u00e1lia","family":"S\u00e1","sequence":"additional","affiliation":[{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"},{"name":"Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, 4050-313 Porto, Portugal"}]},{"given":"Regina","family":"Monteiro","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia\/Espinho (CHVNG\/E), 4434-502 Vila Nova de Gaia, Portugal"},{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3009-3290","authenticated-orcid":false,"given":"M\u00e1rio","family":"Sousa","sequence":"additional","affiliation":[{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"},{"name":"Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, 4050-313 Porto, Portugal"}]},{"given":"Ivone","family":"Pascoal","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Centro Hospitalar de Vila Nova de Gaia\/Espinho (CHVNG\/E), 4434-502 Vila Nova de Gaia, Portugal"},{"name":"UMIB-Unit for Multidisciplinary Research in Biomedicine, ITR-Laboratory for Integrative and Translational Research in Population Health, University of Porto, 4050-313 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1601090","DOI":"10.1183\/13993003.01090-2016","article-title":"European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Lucas","year":"2017","journal-title":"Eur. 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