X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review
Abstract 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'...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2023-12-01
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| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.1240 |
| _version_ | 1797454362609451008 |
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| author | Aoi Kuroda Ho Namkoong Eri Iwami Akihiro Tsutsumi Takahiro Nakajima Hajime Shinoda Yusaku Katada Jiro Iimura Hisato Suzuki Kenjiro Kosaki Takeshi Terashima |
| author_facet | Aoi Kuroda Ho Namkoong Eri Iwami Akihiro Tsutsumi Takahiro Nakajima Hajime Shinoda Yusaku Katada Jiro Iimura Hisato Suzuki Kenjiro Kosaki Takeshi Terashima |
| author_sort | Aoi Kuroda |
| collection | DOAJ |
| description | Abstract 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‐linked retinitis pigmentosa GTPase regulator (RPGR) variant confirmed through electron microscopy, retinal scan, and genetic testing. Although co‐occurrence 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. |
| first_indexed | 2024-03-09T15:36:08Z |
| format | Article |
| id | doaj.art-8560cb8a4e524ea8ad0fce2a6649ca13 |
| institution | Directory Open Access Journal |
| issn | 2051-3380 |
| language | English |
| last_indexed | 2024-03-09T15:36:08Z |
| publishDate | 2023-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Respirology Case Reports |
| spelling | doaj.art-8560cb8a4e524ea8ad0fce2a6649ca132023-11-26T04:58:30ZengWileyRespirology Case Reports2051-33802023-12-011112n/an/a10.1002/rcr2.1240X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature reviewAoi Kuroda0Ho Namkoong1Eri Iwami2Akihiro Tsutsumi3Takahiro Nakajima4Hajime Shinoda5Yusaku Katada6Jiro Iimura7Hisato Suzuki8Kenjiro Kosaki9Takeshi Terashima10Department of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital Ichikawa JapanDepartment of Infectious Diseases Keio University School of Medicine Shinjuku‐ku JapanDepartment of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital Ichikawa JapanDepartment of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital Ichikawa JapanDepartment of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital Ichikawa JapanDepartment of Ophthalmology Keio University School of Medicine Shinjuku‐ku JapanDepartment of Ophthalmology Keio University School of Medicine Shinjuku‐ku JapanDepartment of Otorhinolaryngology Tokyo Dental College Ichikawa General Hospital Ichikawa JapanCenter for Medical Genetics Keio University School of Medicine Shinjuku‐ku JapanCenter for Medical Genetics Keio University School of Medicine Shinjuku‐ku JapanDepartment of Respiratory Medicine Tokyo Dental College Ichikawa General Hospital Ichikawa JapanAbstract 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‐linked retinitis pigmentosa GTPase regulator (RPGR) variant confirmed through electron microscopy, retinal scan, and genetic testing. Although co‐occurrence 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.https://doi.org/10.1002/rcr2.1240bronchiectasisinherited retinal dystrophyprimary ciliary dyskinesiaretinitis pigmentosaretinitis pigmentosa GTPase regulator |
| spellingShingle | Aoi Kuroda Ho Namkoong Eri Iwami Akihiro Tsutsumi Takahiro Nakajima Hajime Shinoda Yusaku Katada Jiro Iimura Hisato Suzuki Kenjiro Kosaki Takeshi Terashima X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review Respirology Case Reports bronchiectasis inherited retinal dystrophy primary ciliary dyskinesia retinitis pigmentosa retinitis pigmentosa GTPase regulator |
| title | X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review |
| title_full | X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review |
| title_fullStr | X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review |
| title_full_unstemmed | X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review |
| title_short | X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review |
| title_sort | x linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to rpgr variant a case report and literature review |
| topic | bronchiectasis inherited retinal dystrophy primary ciliary dyskinesia retinitis pigmentosa retinitis pigmentosa GTPase regulator |
| url | https://doi.org/10.1002/rcr2.1240 |
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