Survival in children with ESRD has increased over the last 20 years, but the SMR remains high. Early transplantation and a more vigorous approach toward hypertension and infection may be mandatory in order to further reduce mortality.

Our data show significant improvement of endothelial dysfunction towards normal levels after short-term simvastatin therapy in children with FH. These results emphasize the relevance of statin therapy in patients with FH at an early stage, when the atherosclerotic process is still reversible.

The leading cause of end-stage renal disease in children is attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Familial clustering and mouse models support the presence of monogenic causes. Genetic testing is insufficient as it mainly focuses on HNF1B and PAX2 mutations that are thought to explain CAKUT in 5–15% of patients. To identify novel, potentially pathogenic variants in additional genes, we designed a panel of genes identified from studies on familial forms of isolated or syndromic CAKUT and genes suggested by in vitro and in vivo CAKUT models. The coding exons of 208 genes were analyzed in 453 patients with CAKUT using next-generation sequencing. Rare truncating, splice-site variants, and non-synonymous variants, predicted to be deleterious and conserved, were prioritized as the most promising variants to have an effect on CAKUT. Previously reported disease-causing mutations were detected, but only five were fully penetrant causal mutations that improved diagnosis. We prioritized 148 candidate variants in 151 patients, found in 82 genes, for follow-up studies. Using a burden test, no significant excess of rare variants in any of the genes in our cohort compared with controls was found. Thus, in a study representing the largest set of genes analyzed in CAKUT patients to date, the contribution of previously implicated genes to CAKUT risk was significantly smaller than expected, and the disease may be more complex than previously assumed.

PurposeTo evaluate if a three‐component model correctly describes the diffusion signal in the kidney and whether it can provide complementary anatomical or physiological information about the underlying tissue.Materials and MethodsTen healthy volunteers were examined at 3T, with T 2‐weighted imaging, diffusion tensor imaging (DTI), and intravoxel incoherent motion (IVIM). Diffusion tensor parameters (mean diffusivity [MD] and fractional anisotropy [FA]) were obtained by iterative weighted linear least squares fitting of the DTI data and mono‐, bi‐, and triexponential fit parameters (D 1, D 2, D 3, f fast2, f fast3, and f interm) using a nonlinear fit of the IVIM data. Average parameters were calculated for three regions of interest (ROIs) (cortex, medulla, and rest) and from fiber tractography. Goodness of fit was assessed with adjusted R2 ( normalRadj2) and the Shapiro‐Wilk test was used to test residuals for normality. Maps of diffusion parameters were also visually compared.ResultsFitting the diffusion signal was feasible for all models. The three‐component model was best able to describe fast signal decay at low b values (b < 50), which was most apparent in normalRadj2 of the ROI containing high diffusion signals (ROIrest), which was 0.42 ± 0.14, 0.61 ± 0.11, 0.77 ± 0.09, and 0.81 ± 0.08 for DTI, one‐, two‐, and three‐component models, respectively, and in visual comparison of the fitted and measured S0. None of the models showed significant differences (P > 0.05) between the diffusion constant of the medulla and cortex, whereas the f fast component of the two and three‐component models were significantly different (P < 0.001).ConclusionTriexponential fitting is feasible for the diffusion signal in the kidney, and provides additional information. Level of Evidence: 2 Technical Efficacy: Stage 1J. MAGN. RESON. IMAGING 2017;46:228–239