| Autor: |
Aoi Kuroda, Ho Namkoong, Eri Iwami, Akihiro Tsutsumi, Takahiro Nakajima, Hajime Shinoda, Yusaku Katada, Jiro Iimura, Hisato Suzuki, Kenjiro Kosaki, Takeshi Terashima |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Respirology Case Reports, Vol 11, Iss 12, Pp n/a-n/a (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2051-3380 |
| DOI: |
10.1002/rcr2.1240 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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