Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia. Mutations in the sodium/glucose co-transporter SGLT2 coding gene, SLC5A2, were recently found to be responsible for the disorder. Here, we report the molecular and phenotype study of five unrelated FRG families. Five patients were identified and their family members screened for glucosuria. SLC5A2 coding region of index cases was polymerase chain reaction amplified and sequenced. Five different mutations are reported, including four novel alleles. The IVS12+1G>A and p.A102V alleles were identified in homozygosity in index patients of two unrelated families. A proband from another family was compound heterozygous for the p.R132H and p.A219T mutations, and the heterozygous p.Q167fsX186 frameshift allele was the only mutation detected in the affected individual from an additional pedigree. For the remaining family no mutations were detected. The patient homozygous for the p.A102V mutation had glucosuria of 65.6 g/1.73 m(2)/24 h, evidence of renal sodium wasting, mild volume depletion, and raised basal plasma renin and serum aldosterone levels. Our findings confirm previous observations that in FRG, transmitted as a codominant trait with incomplete penetrance, most mutations are private. In the only patient with massive glucosuria in our cohort there was evidence evocative of renin-angiotensin aldosterone system activation by extracellular volume depletion induced by natriuresis. Definite proof of renin-angiotensin aldosterone system activation in FGR should rely on evaluation of additional patients with massive glucosuria.

Background. The evidence base regarding the safety of intravenous (IV) iron therapy in patients with chronic kidney disease (CKD) is incomplete and largely based on small studies of relatively short duration. Methods. FIND-CKD (ClinicalTrials.gov number NCT00994318) was a 1-year, open-label, multicenter, prospective study of patients with nondialysis-dependent CKD, anemia and iron deficiency randomized (1:1:2) to IV ferric carboxymaltose (FCM), targeting higher (400–600 µg/L) or lower (100–200 µg/L) ferritin, or oral iron. A post hoc analysis of adverse event rates per 100 patient-years was performed to assess the safety of FCM versus oral iron over an extended period. Results. The safety population included 616 patients. The incidence of one or more adverse events was 91.0, 100.0 and 105.0 per 100 patient-years in the high ferritin FCM, low ferritin FCM and oral iron groups, respectively. The incidence of adverse events with a suspected relation to study drug was 15.9, 17.8 and 36.7 per 100 patient-years in the three groups; for serious adverse events, the incidence was 28.2, 27.9 and 24.3 per 100 patient-years. The incidence of cardiac disorders and infections was similar between groups. At least one ferritin level ≥800 µg/L occurred in 26.6% of high ferritin FCM patients, with no associated increase in adverse events. No patient with ferritin ≥800 µg/L discontinued the study drug due to adverse events. Estimated glomerular filtration rate remained the stable in all groups. Conclusions. These results further support the conclusion that correction of iron deficiency anemia with IV FCM is safe in patients with nondialysis-dependent CKD.

Acute kidney injury (AKI) is a common complication in children after surgery for congenital heart disease, and peritoneal dialysis (PD) is usually the renal replacement therapy (RRT) of choice, especially in very young children. The aim of the present study was to describe our experience of using PD to treat AKI after cardiac surgery.We retrospectively analyzed children 1 week to 16 years of age undergoing cardiac surgery during 2000 -2008 and found the incidence of AKI treated with PD to be 2.3%. In the 23 patients treated with PD (13 male; average age: 29 ± 48.4 months; weight: 9.1 ± 8.1 kg), the indications for PD initiation were oliguria (n = 13), anuria (n = 9), and acidosis (n = 1). The average time between cardiac surgery and AKI was 4.8 ± 16.8 hours, and between AKI and PD initiation, it was 12 ± 16.8 hours. Patients were treated for a mean of 4.8 ± 3.8 days. Two patients developed peritonitis, and mechanical dysfunction of the PD catheter occurred in 1 patient. In-hospital mortality was 43.4%. Patients treated with PD weighed less (p = 0.004) and had longer bypass time (p = 0.004), inotrope use (p = 0.000), and mechanical ventilation (p = 0.000). However, in a regression analysis, only cardiopulmonary bypass time (odds ratio: 1.021; 95% confidence interval: 0.998 to 1.027; p = 0.032) remained predictive of a subsequent need for PD.We conclude that PD is an efficacious RRT for AKI in children undergoing cardiac surgery and that, in this setting, bypass time is the strongest predictor of a subsequent need for RRT.

Patency of the left superior vena cava, although uncommon, is the most frequent anomaly of the thoracic vessels. It has been diagnosed in 0.3–0.5% of the general population. A persistent left superior vena cava (PLSVC) results from the abnormal persistence of an embryological vessel that normally involutes into the coronary sinus during fetal life. Catheterization of this vessel, including hemodialysis (HD) catheter placement, appears to be safe if adequate drainage of the PLSVC to the right atrium exists. We present the case of a 50-year-old HD patient in which the placement of a catheter through the left internal jugular vein, needed for HD treatment, revealed a PLSVC. After the demonstration of adequate draining of the vessel into the right atrium, replacement of this catheter for a cuffed tunneled HD catheter was done, which has since been used successfully for HD.

Our findings may contribute to a better understanding of the neurotoxic effects of aluminium and its desferrioxamine chelate in dialysis patients.