Background: Patients with end-stage renal disease (ESRD) require specialized therapeutic interventions. The decreased renal function that modulates the physiology and presence of comorbidities is often associated with variations in the pharmacological response, thus increasing the risk of adverse drug events or reactions (ADE/ADRs) from co-administered drugs. Methods: A cross-sectional study to record comorbidities, drug–drug interactions (DDIs), ADE/ADRs in patients with chronic kidney disease of stage five in Greece. The study enrolled 60 patients of mean age 64.8 ± 12.9 years, undergoing hemodialysis three times a week. Demographic and social factors, comorbidities, laboratory test data, medication regimens, DDIs and the reporting of ADE/ADRs were analyzed. Results: Cardiovascular diseases and diabetes were the main comorbidities. In total, 50 different DDIs of various clinical significance were identified. CNS, GI-track, and musculoskeletal-system-related ADE/ADRs were most often reported by patients. ADE/ADRs as clinical outcome from DDIs were associated in 64% of the total identified DDIs. There was a positive trend between number of medications, ADE/ADRs report and DDIs. Conclusions: The impact of ADE/ADRs in ESRD patients should be always considered. Guidelines as well as continuous training in the context of evidence-based clinical practice by healthcare personnel on therapy administration and prevention of adverse events are important.

Alport syndrome (AS) is the most frequent monogenic inherited glomerulopathy and is also genetically and clinically heterogeneous. It is caused by semi-dominant pathogenic variants in the X-linked COL4A5 (NM_000495.5) gene or recessive variants in the COL4A3/COL4A4 (NM_000091.4/NM_000092.4) genes. The disease manifests in early childhood with persistent microhematuria and can progress to proteinuria and kidney failure in adolescence or early adulthood if left untreated. On biopsy, pathognomonic features include alternate thinning, thickening and lamellation of the glomerular basement membrane (GBM), in the presence of podocyte foot process effacement. Although previous studies indicate a prevalence of AS of about 1/50,000, a recent publication reported a predicted rate of pathogenic COL4A5 variants of 1/2320. We herewith present 98 patients (40 M/58 F) from 26 Greek families. We are selectively presenting the families segregating the X-linked form of AS with pathogenic variants in the COL4A5 gene. We found 21 different pathogenic variants, 12 novel: eight glycine and one proline substitutions in the collagenous domain, one cysteine substitution in the NC1 domain, two premature termination of translation codons, three splicing variants, one 5-bp insertion/frameshift variant, one indel-frameshift variant and four gross deletions. Notably, patients in six families we describe here and three families we reported previously, carried the COL4A5-p.G624D substitution, a founder defect encountered all over Europe which is hypomorphic with mostly milder symptomatology. Importantly, on several occasions, the correct genetic diagnosis reclassified patients as patients with AS, leading to termination of previous immunosuppressive/cyclosporine A therapy and a switch to angiotensin converting enzyme inhibitors (ACEi). With the understanding that all 98 patients span a wide range of ages from infancy to late adulthood, 15 patients (11 M/4 F) reached kidney failure and 11 (10 M/1 F) received a transplant. The prospects of avoiding lengthy diagnostic investigations and erroneous medications, and the advantage of delaying kidney failure with very early administration of renin-angiotensin-aldosterone system (RAAS) blockade, highlights the importance of timely documentation of AS by genetic diagnosis.

Introduction: The aim of this prospective study was to evaluate the impact of hemodialysis (HD) on myocardial injury, of both right and left ventricle function as well as their association with venous oxygen saturation (ScvO2) alterations.Material and methods: We included in the study stable consecutive patients with end-stage renal disease (ESRD) undergoing regular HD. Right and left ventricular speckle-tracking echocardiographies were performed in all patients. The examination calculates the global systolic longitudinal strain (GLS). Blood samples were obtained from the central vein in order to measure the O2 saturation (ScvO2) levels prior and post HD. High sensitive troponin (HST) was also measured in all patients before and after HD.Results: Thirty seven patients were evaluated. We found that both mean ScvO2 and left ventricle GLS (LV GLS) were deteriorated after the dialysis session: 76.47 ±1.98 to 71.54 ±5.10, p < 0.05 and –17.73 ±3.44 to –14.21 ±3.44%, p < 0.01, respectively. HST levels were increased at the end of hemodialysis, 22.45 ±13.26 to 106.78 ±146.19 pg/ml, p < 0.01. A significant correlation was also found between the decrease of LV GLS with the ScvO2 reduction, p = 0.001, as well as with the increase of the HST levels, p = 0.001.Conclusions: Our data demonstrate that there is a significant worsening of the GLS of the left ventricle at the end of the dialysis, which is strongly associated with the concomitant deterioration of ScvO2. The may be a reliable index of circulatory stress indicating a subclinical myocardial dysfunction during HD.