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'...

Full description

Bibliographic Details
Main Authors: Aoi Kuroda, Ho Namkoong, Eri Iwami, Akihiro Tsutsumi, Takahiro Nakajima, Hajime Shinoda, Yusaku Katada, Jiro Iimura, Hisato Suzuki, Kenjiro Kosaki, Takeshi Terashima
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Respirology Case Reports
Subjects:
Online Access:https://doi.org/10.1002/rcr2.1240
Description
Summary: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.
ISSN:2051-3380