The proposed grading classification system will require extensive evaluation to assess its utility in predicting clinical outcomes. Currently, the grading system is correlated with the risk of postnatal uropathies. Future research will help to further refine the classification system to one that correlates with other clinical outcomes such as the need for surgical intervention or renal function.

Whole exome sequencing is a sensitive approach toward diagnosis of monogenic causes of steroid-resistant nephrotic syndrome. A molecular genetic diagnosis of steroid-resistant nephrotic syndrome may have important consequences for the management of treatment and kidney transplantation in steroid-resistant nephrotic syndrome.

We identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT.

Background Midaortic syndrome is often associated with refractory hypertension. Our aim was to better understand the short and medium-term outcomes in this patient population utilizing a multidisciplinary management approach. Methods We conducted a review of patients with midaortic syndrome treated at our institution over the past 30 years. Results Fifty-three patients presented at a median age of 6.7 (birth – 28.7) years. Thirty-five patients (66%) underwent invasive management (percutaneous techniques: 21; surgical techniques: 5; both: 9). Percutaneous interventions were acutely successful in decreasing the gradient across the obstruction and degree of luminal stenosis. However, freedom from reintervention was 58% at 1 year and 33% at 5 years. Freedom from reintervention after a surgical procedure was longer: 83% at 1 year and 72% at 10 years. At most recent follow-up, the majority of patients (69%) were normotensive. The median duration between time of presentation and achievement of blood pressure control was 5.7 (0.4 – 21.1) years. The median number of anti-hypertensive medications was 1 (0 – 5). Conclusions A multidisciplinary management strategy, which couples comprehensive medical management with catheter-based and surgical interventions, can lead to adequate blood pressure control and preservation of end-organ function in patients with midaortic syndrome.