Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (i.e. affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12, and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3, and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Purpose: Laparoscopic transvesical ureteral reimplantation with or without robot assisted surgical devices is being developed as an alternative to open surgery. We sought to review our experience with an extravesical robotic technique, to determine whether postoperative voiding dysfunction might be avoided with pelvic plexus visualization and to evaluate the overall feasibility of this approach to ureteral surgery. Materials and Methods: A total of 41 patients underwent robotic extravesical reimplantation for bilateral vesi-coureteral reflux. The patients were divided into groups based on bladder capacity as measured by voiding cystourethrogram. The operation was performed via a transperitoneal approach with robotic assistance using the da Vinci Surgical System. Results: Operative success rates were 97.6%. There were no complications. There were no episodes of urinary retention documented by bladder scanning. Conclusions: Robotic extravesical reimplantation is in its infancy, and visualization of the pelvic plexus appears to be paramount in avoiding postoperative voiding complications. This approach appears to be a feasible and reasonable option for vesicoureteral reflux correction. Editorial Comment Forty-one patients underwent retrospective chart review after robotic extravesical reimplantation for vesicoureteral reflux grades III-V regardless of duplication anomalies. Indication for surgery was breakthrough pyelonephritis despite prophylactic antibiotics. Voiding diaries, uroflow, post-void residual measurements and constipation issues were addressed pre-operatively. All patients underwent cystoscopy with ureteral catheters placed in the aid of the dissection. One camera port and two other robotic ports were used. The authors were careful to do a nerve-sparing technique and felt that the robot with its better visualization allowed the nerves to be easily spared. All patients had an overnight catheter. The average operating time was 2.33 hours with an average length of stay of 26.1 hours. Post-void residual urines were checked by bladder scan and all patients voided after the catheter was removed and there was a mean residual of 13 mL of urine in the bladder. One patient had reflux on a three month VCUG and no patients had hydronephrosis on the ultrasound at 3 and 6 months postoperatively. The authors should be congratulated on a study well done with good and careful follow up of the pre-and post-op bowel and bladder management. This shows that extravesical nerve-sparing robotic reimplantations can be done safely with excellent results. Always the question for endoscopic procedures in children: "is it an improvement over the open surgical techniques and does it offer patient benefit?" I believe those answers will in time become clear but as yet it remains to be seen.

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Pediatric ureteroscopy is a safe and efficacious modality in the treatment of all upper urinary tract calculi, including lower pole calculi.

Laparoscopic intravesical reimplantation is in its infancy and appears to have higher complication rates in young patients with small bladder capacity.

Robot assisted pyeloplasty is a safe and effective option in the surgical treatment of infant ureteropelvic junction obstruction. Further long-term studies are needed to confirm the usefulness of robotics in minimally invasive pediatric surgery.

DISCLAIMER Purpose Little is known about the learning curve of robotic surgery for surgeons-in-training. We hypothesized that pediatric urology fellows could attain proficiency in robotic pyeloplasty, defined as an operative time equivalent to that of an experienced robotic surgeon, within the two-year time frame of fellowship. Material and Methods From 2006 – 2010, we performed a prospective cohort study of four pediatric urology fellows and one pediatric urology attending performing pediatric robotic pyeloplasty. The operative times and surgical outcomes of 20 consecutive robotic pyeloplasties performed by four pediatric urology fellows (n = 80 cases) and a random sample of 20 cases performed by the attending surgeon were recorded. Multivariate linear regression was used to determine the change in operative time for each case the fellows performed and to estimate the number of cases necessary for fellows to achieve the median operative time of the attending pediatric urologist. Results The fellows’ operative times decreased at a constant rate of 3.7 minutes on average per case (95% CI 3.0 – 4.3 min/case). Fellows were projected to achieve the median attending operative time after 37 cases. No operative complications or failed pyeloplasties occurred. Conclusions Operative times for robotic pyeloplasty performed by fellows consistently decreased with cumulative surgical experience. These data can be used to help establish benchmarks of robotic pyeloplasty in pediatric urology assuming an appropriate exposure to robotics and an adequate case volume.

We conclude that low-dose intrathecal morphine in the pediatric population can be a useful and safe adjunct for postoperative analgesia.