Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report

BackgroundThe mutations in the RPGR (retinitis pigmentosa GTPase regulator) gene are the most common cause of X-linked retinitis pigmentosa (XLRP), a rare genetic disorder affecting the photoreceptor cells in the retina. Several reported cases identified this gene as a genetic link between retinitis pigmentosa (RP) and primary ciliary dyskinesia (PCD), characterised by impaired ciliary function predominantly in the respiratory tract. Since different mutations in the same gene can result in various clinical manifestations, it is important to describe a correlation between the gene variant and the observed phenotype.MethodsTwo young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing.ResultsWe identified a novel frameshift RPGR mutation NM_001034853: c.309_310insA, p.Glu104Argfs*12, resulting in a complex X-linked phenotype combining PCD and RP. In our patients, this mutation was associated with normal ultrastructure of respiratory cilia, reduced ciliary epithelium, more aciliary respiratory epithelium, shorter cilia, and uncoordinated beating with a frequency at a lower limit of normal beating, explaining the clinical manifestation of PCD in our patients.ConclusionThe identified novel pathogenic mutation in the RPGR gene expands the spectrum of genetic variants associated with the X-linked PCD phenotype overlapping with RP, highlighting the diversity of mutations contributing to the disorder. The described genotype–phenotype correlation can be useful in clinical practice to recognise a broader spectrum of PCD phenotypes as well as for future research focused on the genetic basis of PCD, gene interactions, the pathways implicated in PCD pathogenesis, and the role of RPGR protein for the proper functioning of cilia in various tissues throughout the body

Effects of Pleuran (β-glucan from Pleurotus ostreatus) Supplementation on Incidence and Duration of Bronchiectasis Exacerbations

BACKGROUND: Patients with non-cystic fibrosis bronchiectasis (BE) have frequent exacerbations that are causes of significant morbidity and sometimes mortality, and which it is desirable to prevent. AIM: We aimed to assess the effects of pleuran on the incidence and duration of exacerbations in patients with BE. METHODS: A prospective, observational, open-label, and active-controlled study was realized as a comparison of the frequency and duration of exacerbations between a group of patients with BE (30 patients, 14 males and 16 females, aged 44–72 years) who received a combination supplement containing pleuran 100 mg, Vitamin C 60 mg and zinc 5 mg over a 3-month period and a group of patients with BE (31 patients, 15 males and 16 females, aged 45–74 years) treated over a 3-month period with a combination supplement containing Vitamin C 60 mg and zinc 5 mg. RESULTS: Over the study period, altogether 46 exacerbations were documented (19 in the patients receiving pleuran and 27 in the patients who did not receive pleuran), nine of which required hospital treatment (four in the patients receiving pleuran [21.5%] and five in the patients who did not receive pleuran [18.6%]). The mean number of exacerbations over the study period was significantly lower in the patients receiving pleuran (0.6 ± 0.4) as compared to the mean number in the patients who did not receive pleuran (0.8 ± 0.3) (p = 0.0297). The mean duration of exacerbations, expressed in days, needed for cure or clinical improvement in the patients receiving pleuran (11.2 ± 1.7 days) was significantly shorter than that of exacerbations in the patients who did not receive pleuran (12.4 ± 1.3 days) (p = 0.0029). We found significantly lower incidence and significantly shorter duration of exacerbations in the patients with BE who received pleuran as compared to their incidence and duration in the patients with BE who did not receive pleuran. CONCLUSION: Our findings indicated a need for further investigations in this domain to define the possible role of pleuran in the prevention of BE exacerbations