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Introduction. The aim of the study was to examine the impact of adherence to a Mediterranean-style diet (MD) on left ventricular hypertrophy (LVH) and cardiac geometry in chronic kidney disease patients on dialysis (CKD-5D), given the high prevalence of cardiovascular morbidity in this population. Methods. n = 127 (77 men and 50 women) CKD-5D patients (69 on hemodialysis and 58 on peritoneal dialysis) with a mean age of 62 ± 15 years were studied. An MD adherence score (MDS) (range 0–55, 55 representing maximal adherence) was estimated with a validated method. Echocardiographic LVH was defined by LV mass index (LVMI) > 95 g/m2 in women and >115 g/m2 in men. Based on LVMI and relative wall thickness (RWT), four LV geometric patterns were defined: normal (normal LVMI and RWT), concentric remodeling (normal LVMI and increased RWT > 0.42), eccentric LVH (increased LVMI and normal RWT), and concentric LVH (increased LVMI and RWT). Results. Patients with LVH (n = 81) as compared to patients with no LVH (n = 46) were older in age (66 ± 13 vs. 55 ± 16 years; p < 0.001) had lower MDS (24 ± 2.7 vs. 25 ± 4.3; p < 0.05) and higher malnutrition-inflammation score (5.0 ± 2.7 vs. 3.9 ± 1.9; p < 0.05), body mass index (27.5 ± 4.9 vs. 24.1 ± 3.5 kg/m2; p < 0.001), prevalence of diabetes (79% vs. 20%; p < 0.05), coronary artery disease (78% vs. 20%; p < 0.05) and peripheral vascular disease (78% vs. 20%; p < 0.01). In a multivariate logistic regression analysis adjusted for all factors mentioned above, each 1-point greater MDS was associated with 18% lower odds of having LVH (OR = 0.82, 95% CI: 0.69–0.98; p < 0.05). MDS was inversely related to LVMI (r = −0.273; p = 0.02), and in a multiple linear regression model (where LVMI was analyzed as a continuous variable), MDS emerged as a significant (Β = −2.217; p < 0.01) independent predictor of LVH. Considering LV geometry, there was a progressive decrease in MDS from the normal group (25.0 ± 3.7) to concentric remodeling (25.8 ± 3.0), eccentric (24.0 ± 2.8), and then concentric (23.6 ± 2.7) group (p < 0.05 for the trend). Conclusions. The greater adherence to an MD is associated with lesser LVH, an important cardiovascular disease risk factor; MD preserves normal cardiac geometry and may confer protection against future cardiac dysfunction in dialysis patients.

Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild neurological involvement (autosomal dominant renal hypomagnesemia 6, HOMG6, MIM# 613882). Using a bioinformatics approach, we showed that the p.Pro482Ala amino acid substitution causes a 3D conformational change in CNNM2 structure in the cystathionin beta synthase (CBS) domain and the carboxy-terminal protein segment. A novel finding was that aldosterone inhibition with spironolactone helped to alleviate hypomagnesemia and symptoms in the proband.

Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported. Case presentation We present a family with Dent-2 disease and a Bartter-like phenotype. The main clinical problems observed in the proband included a) primary phosphaturia leading to osteomalacia and stunted growth; b) elevated serum calcitriol levels, leading to hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis; c) severe salt wasting causing hypotension, hyperaldosteronism, hypokalemia and metabolic alkalosis; d) partial nephrogenic diabetes insipidus attributed to hypercalcemia, hypokalemia and nephrocalcinosis; e) albuminuria, LMWP. Phosphorous repletion resulted in abrupt cessation of hypercalciuria and significant improvement of hypophosphatemia, physical stamina and bone histology. Years later, he presented progressive CKD with nephrotic range proteinuria attributed to focal segmental glomerulosclerosis (FSGS). Targeted genetic analysis for several phosphaturic diseases was unsuccessful. Whole Exome Sequencing (WES) revealed a c.1893C > A variant (Asp631Glu) in the OCRL gene which was co-segregated with the disease in male family members. Conclusions We present the clinical characteristics of the Asp631Glu mutation in the OCRL gene, presenting as Dent-2 disease with Bartter-like features. Phosphorous repletion resulted in significant improvement of all clinical features except for progressive CKD. Angiotensin blockade improved proteinuria and stabilized kidney function for several years. Graphical abstract

Background and Aims Low serum Mg (s-Mg) concentration has been associated with an increased risk of death in both the general and dialysis populations. In peritoneal dialysis (PD) patients, an inverse correlation between s-Mg and abdominal aortic calcification (AAC), estimated by plain lateral lumbar x-rays, as Leena Kauppila (LK) score (range 0-24), is well documented. LK score of 0-4 has been associated with the best event free survival (CORD study CJASN 2011). Here, we explored the possibility whether AAC could modify the relationship between s-Mg and all-cause mortality in PD patients. Method We studied 95 stable PD patients, 51 men 44 women, with a mean age of 63 ±14 years. The degree of AAC was evaluated with on plain lateral abdominal radiographs, as LK score. After completion of baseline assessment, including s-Mg measurements, patients were followed up for all-cause mortality. Results The mean of s-Mg and AAC in the whole group were 2.25±0.47 mg/dl and 6.65 ± 5.94 respectively. There was an strong inverse correlation (rho = -0.225; p=0.029) between s-Mg and AAC. During a median follow-up period of 23 months, 16 (17%) deaths occurred. There was a 78% reduction of all-cause mortality for every 1 mg/dl of increase in s-Mg {crude HR: 0.22 (95% CI, 0.06 - 0.78)}. An interacting effect between s-Mg and AAC was significant (p=0.005) after controlling for main effects. Then, the association between s-Mg and all-cause mortality by subgroups of AAC: higher tertile vs all lower, was examined (cut-offs of the tertiles for AAC were 3 and 9). In patients grouped in the lower tertiles, s-Mg was a significant predictor of all-cause mortality, even after adjustment for univariate significant predictors of all-cause mortality: age, cardiovascular disease, PD vintage and malnutrition-inflammation score (MIS) {adjusted HR: 0.14 (95% CI, 0.02-0.0.98)}. On the contrary, patients with AAC in the higher tertile of the baseline distribution, s-Mg levels were not predictive of outcome in either crude or the adjusted models. Conclusion The predictive value of s-Mg in all-cause mortality in PD patients appears to be critically dependent on AAC score. Thus, sustaining higher sMg levels, as by using higher Mg dialysate concentration, may have beneficial effects on clinical outcomes only in patients without AAC or at least in those with early lesion development.