{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T05:07:53Z","timestamp":1785733673954,"version":"3.56.0"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["21fk0108621h0001"],"award-info":[{"award-number":["21fk0108621h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["21wm0325044h0001"],"award-info":[{"award-number":["21wm0325044h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bronchiectasis is a chronic respiratory condition characterized by irreversible bronchial dilation, often caused by infection or inflammation. It can be associated with primary ciliary dyskinesia (PCD), a hereditary disorder affecting cilia function in various organs and flagella. PCD's genetic heterogeneity leads to varying disease severity. PCD may be more prevalent in Asia, but its diagnosis is often delayed in Japan. This study reviewed a case of PCD and retinitis pigmentosa (RP) with the relevant literature. The patient had a persistent cough, sputum, and diffuse bronchiectasis. He was diagnosed with a combination of PCD and RP, with the presence of an X\u2010linked retinitis pigmentosa GTPase regulator (<jats:italic>RPGR<\/jats:italic>) variant confirmed through electron microscopy, retinal scan, and genetic testing. Although co\u2010occurrence of bronchiectasis and RP is rare, PCD should be considered in cases of persistent wet cough in childhood or unidentified bronchiectasis aetiology. Ophthalmologists should consider concomitant PCD in RP patients<jats:italic>.<\/jats:italic><\/jats:p>","DOI":"10.1002\/rcr2.1240","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T09:08:36Z","timestamp":1698743316000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["X \u2010linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to <i>RPGR<\/i> variant: A case report and literature review"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8751-9600","authenticated-orcid":false,"given":"Aoi","family":"Kuroda","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital  Ichikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ho","family":"Namkoong","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases Keio University School of Medicine  Shinjuku\u2010ku Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eri","family":"Iwami","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital  Ichikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Tsutsumi","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital  Ichikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Nakajima","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital  Ichikawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Shinoda","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Keio University School of Medicine  Shinjuku\u2010ku 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