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'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.

Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis

“…A subsequent study in patients found significant ciliary depletion and goblet cell hyperplasia [59], and a recent report documents bronchiectasias in a Bardet-Biedl syndrome patient [60]. The association between retinitis pigmentosa and PCD, usually complicated with bronchiectasis, is well documented in the scientific literature [61]. A significant relationship between polycystic kidney disease and bronchiectasis have been observed, and one of the genes mutated in the ciliopathy, polycistin-1, is expressed in motile cilia in the airway epithelial cells [62,63].…”

Primary Ciliary Dyskinesia: A Clinical Review

“…Normal is more common. Kuroda A et al reported a case with a heterozygous RPGR variant and ODA+IDA defect on TEM [ 170 ].…”

“…Patients with RPGR variants have rarely also been noted to have recurrent sinus, ear, and lung infections with the development of bronchiectasis but not laterality defects, with RPGR playing a role in both respiratory cilia and photoreceptor cilia [ 188 ]. TEM may have a normal appearance with abnormal motility on HSMVA, though some ultrastructural defects have also been reported [ 119 , 170 , 188 ].…”

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

“…Although some authors reported no respiratory symptoms in XLRP families and RPGR variants [ 11 , 12 ], other authors described the presence of PCD symptoms with motile ciliary defects in a variable number of males in XLRP families, indicating the incomplete penetrance of respiratory symptoms in those cases [ 13 , 14 , 15 , 16 , 17 , 18 , 19 ]. McCray et al [ 20 ] observed a high percentage of XLRP patients with ciliary orientation abnormalities and disorganised ciliary beat, but without clinical consequences [ 20 ].…”