Under the term cardiorenal syndrome (CRS) falls an increasing number of patients who present with combined heart and kidney dysfunction. Despite the increasing knowledge concerning CRS pathophysiology, diagnosis, and treatment, many of the aforementioned aspects remain obscure in everyday clinical practice. Some of the challenges that clinicians face when they treat CRS nowadays is the need for a patient-centered management with early diagnosis, early intervention, the distinction of true kidney injury from permissive renal function deterioration during decongestion therapy, and the development of therapeutic algorithms to guide therapy.
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.
The evolving landscape of clinical genetics is becoming increasingly relevant in the field of nephrology. HNF1B-associated renal disease presents with a diverse array of renal and extrarenal manifestations, prominently featuring cystic kidney disease and diabetes mellitus. For the genetic analyses, whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were performed. Bioinformatics analysis was performed with Ingenuity Clinical Insights software (Qiagen). The patient’s electronic record was utilized after receiving informed consent. In this report, we present seven cases of HNF1B-associated kidney disease, each featuring distinct genetic abnormalities and displaying diverse extrarenal manifestations. Over 12 years, the mean decline in eGFR averaged −2.22 ± 0.7 mL/min/1.73 m2. Diabetes mellitus was present in five patients, kidney dysplastic lesions in six patients, pancreatic dysplasia, hypomagnesemia and abnormal liver function tests in three patients each. This case series emphasizes the phenotypic variability and the fast decline in kidney function associated with HNF-1B-related disease. Additionally, it underscores that complex clinical presentations may have a retrospectively straightforward explanation through the use of diverse genetic analytical tools.
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.
Calcification of coronary vessels progresses rapidly in hemodialysis (HD) patients and comprises a strong predictor of cardiovascular events. The aim of this prospective study was to evaluate the coronary artery calcification (CAC) in patients with end stage renal disease undergoing regular HD and to determine the effect of renal transplantation (RT) in the progression of CAC, using the Agatston technique for calcium scoring. The study included 20 patients with end-stage renal disease undergoing a regular HD treatment (16 males, 4 females) 54.1 ± 9.5 years old who had just received a renal transplant and 16 more HD patients (11 males, 5 females) 54.4 ± 13.8 years old as control group. The baseline evaluation showed a very high prevalence of CAC in both groups, which was positively correlated with age (p < 0.001) and CRP (p = 0.03). The second (follow-up) evaluation showed a significant slower progression of calcification after RT. In both groups, high calcium score values in the follow-up evaluation had a strong positive correlation with baseline calcium score (p < 0.001).