Nicolette Janzen

Complications following Staged Hypospadias Repair Using Transposed Preputial Skin Flaps

PURPOSE Proximal hypospadias repair using a staged approach is a complex reconstructive operation with the potential for significant complications requiring repeat surgery. We report outcomes of staged hypospadias repair using transposed preputial skin flaps and factors predictive of postoperative complications. MATERIALS AND METHODS We retrospectively analyzed patients who underwent staged proximal hypospadias repair using transposed preputial skin flaps between 2002 and 2013. Patient demographics, operative details, complications, reoperations and factors predictive of complications were reviewed. RESULTS A total of 56 patients were identified with a mean age of 14.1 months (median 14.3) at first stage. Mean followup was 38.6 months (median 34.1). Complications requiring additional unplanned operation(s) were observed in 38 patients (68%), including fistulas in 32 (57%), diverticula in 8 (14%), meatal stenosis in 5 (9%), urethral stricture in 8 (14%) and glans dehiscence in 3 (5%). In addition, redo first stage repair was performed in 4 patients (7%). Since some patients had more than 1 complication, the total number of complications is greater than the number of patients undergoing a redo operation. On univariate analyses the use of small intestinal submucosa was significantly associated with an increased risk of fistula (91% vs 49%, p = 0.02) and urethral diverticulum (64% vs 24%, p = 0.04). Incision of the tunica albuginea of the corpora was associated with an increased likelihood of fistula (77% vs 44%, p = 0.03). Finally, patients with glans dehiscence were significantly younger at first stage (5.8 vs 14.8 months, p = 0.01). CONCLUSIONS The reoperation rate for complications in children undergoing staged hypospadias repair using transposed preputial skin flaps is higher than previously reported.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Purpose:To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT).Methods:WES was performed in 62 families with CAKUT. WES data were analyzed for single-nucleotide variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs).Results:In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. The clinical database of the Baylor Miraca Genetics laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these eight individuals with FOXP1 SNVs have syndromic urinary tract defects, implicating this gene in urinary tract development.Conclusion:We conclude that WES can be used to identify molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.Genet Med 19 4, 412–420.

Outcomes of Endoscopic Incision for the Treatment of Ureterocele in Children at a Single Institution

PURPOSE We assessed outcomes in children with ureterocele after transurethral incision at our institution between 2001 and 2014, focusing on end points of vesicoureteral reflux, improvement of hydronephrosis and need for second surgery. MATERIALS AND METHODS We performed chart reviews of 83 patients, collecting information including age at transurethral incision, gender, renal anatomy, ureterocele location, indication for transurethral incision, and preincision and postincision vesicoureteral reflux and hydronephrosis status. Patients were divided into those with single system and duplex system ureteroceles, and intravesical and extravesical location for analysis. Statistical evaluations were performed with the Wilcoxon rank test and Fisher exact test. RESULTS Transurethral incision was performed at a mean age of 34.2 months in patients with single system ureterocele and 8.9 months in those with duplex system ureterocele (p <0.0001). Cure rates (improvement of hydronephrosis and absence of vesicoureteral reflux) were 55.6% in patients with single system ureterocele and 14.9% in those with duplex system ureterocele (p = 0.0031). Rates of de novo reflux into the ureterocele moiety were 27.8% for patients with single system ureterocele and 56.2% for those with duplex system ureterocele (p = 0.0773). Patients with single system ureterocele required significantly fewer second surgeries (3.8%) than those with duplex system ureterocele (73.7%, p <0.0001). CONCLUSIONS Patients with single system ureterocele may benefit from endoscopic incision. Transurethral incision was definitive in all such patients except 1 in our study. Although most patients with duplex system ureterocele will need a second operation, transurethral incision remains of value in this population in instances of sepsis or bladder outlet obstruction, or to facilitate planned reconstruction when the child is older.

Posterior urethral valves: Risk factors for progression to renal failure

INTRODUCTION Posterior urethral valves (PUVs) are the most common etiology for congenital urethral obstruction and congenital bilateral renal obstruction. PUVs produce a spectrum of urologic and renal sequelae. Our aims were to assess outcomes of PUV patients, to determine whether vesicoureteral reflux (VUR) is a risk factor for progression to renal failure, and to identify other risk factors for poor outcomes. MATERIALS AND METHODS We conducted a retrospective analysis of PUV patients from 2006 to 2014. Data collected included demographics, initial renal ultrasound (RUS) findings, creatinine at presentation and nadir, pre- and postoperative VUR status, presence or absence of recurrent urinary tract infections (UTIs), and surgical intervention(s). Univariate and multivariate analyses were used to determine risk factors for renal failure. RESULTS Of 104 patients, 42.3% (44/104) were diagnosed prenatally, 31.8% (14/44) of whom underwent prenatal intervention. Postnatally, 90.4% (94/104) initially underwent transurethral resection of PUVs (TUR-PUVs). Vesicostomy was the next most common index surgery (4.8%). Forty-two percent (44/104) required >1 surgery. The predominant second surgery was repeat TUR-PUV in 16 patients. At last follow-up (mean 28.8 months after initial surgery), 20.2% had chronic kidney disease (CKD) of at least stage IIIA, and 8.6% had progressed to end-stage renal disease (ESRD). Antenatal diagnosis, prematurity, abnormal renal cortex, and loss of corticomedullary differentiation (CMD) on initial RUS were associated with CKD and ESRD on univariate analysis, as were elevated creatinine on presentation and at nadir. Presence of pre- or postoperative VUR and recurrent UTIs were associated with the need for multiple surgeries, but not with poor renal outcomes. On multivariate analysis, nadir creatinine was the only independent predictor of final renal function. CONCLUSIONS Our finding that creatinine is the only independent risk factor for poor renal outcomes in PUV patients is consistent with the literature. The effect of VUR has been controversial, and our finding that VUR is associated with need for multiple surgeries but not with CKD or ESRD is novel. Limitations include biases inherent to retrospective studies and relatively small sample size. The majority of patients with PUVs (56.7%) required one surgery and maintained renal function with CKD II or better (79.8%) up to 2 years after initial surgery. While multiple factors were associated with poor renal outcomes, nadir creatinine was the only independent predictor. VUR and recurrent UTIs were not associated with poor renal outcomes. Longer follow-up is necessary to identify risk factors for delayed progression of renal disease.

Urologic Outcomes of Children With Hemorrhagic Cystitis After Bone Marrow Transplant at a Single Institution

OBJECTIVE To analyze clinical outcomes and the risk factors associated with genitourinary (GU) morbidity and mortality in children who present with hemorrhagic cystitis (HC) after bone marrow transplant (BMT). METHODS A retrospective chart review of patients with HC who had undergone BMT at a single pediatric hospital from 2008 to 2015 was conducted. Demographic data, severity of hematuria, HC management, and mortality were analyzed. Bivariate analysis and binary logistic regression were performed to identify risk factors. RESULTS Out of 43 patients who met inclusion criteria, 67.4% were male with a median age at BMT of 10.2 years (interquartile range 5.8-14.6). Percutaneous nephrostomy catheters were inserted in 5 patients for urinary diversion. All-cause mortality was 32.6% (N = 14). Intravesical retroviral therapy (P <.001), HC grade (P <.001), total Foley time (P <.001), total gross hematuria time (P <.001), total days hospitalized (P = .012), and days to most improved hematuria (P = .032) were associated with significant GU morbidity on bivariate analysis. On multivariable analysis, days to most improved hematuria was associated with significant GU morbidity odds ratio of 1.177 (1.006-1.376) (P = .042). Status of percutaneous nephrostomy was not associated with increased mortality (P = .472); however, in the multivariate model, BK viremia (P = .023), need for renal dialysis (P = .003), and presence of Foley catheter (P = .005) were associated with increased mortality. CONCLUSION Children with HC after BMT fall in a very high-risk category with high mortality and significant GU morbidity. The presence of a Foley catheter, need for dialysis, and BK viremia are associated with increased mortality.

Evaluating Outcomes of Differential Surgical Management of Non-functioning Upper Pole Renal Moieties in Duplex Collecting Systems

OBJECTIVE To evaluate the management and clinical outcomes of nonfunctioning upper pole moieties treated with either upper pole heminephrectomy or upper pole preservation with lower ureteral reconstruction at a single tertiary institution. METHODS After Institutional Review Board (IRB) approval, patients with duplicated systems undergoing upper pole heminephrectomy, ureteroureterostomy, or common sheath ureteral reimplantation from 2012-2017 were identified. Only patients with a nonfunctioning upper pole moiety on ultrasound or renal scan were included. Patients undergoing upper pole heminephrectomy were compared to those undergoing upper pole preservation with respect to demographics, anatomic variations preoperatively, and postoperative outcomes. RESULTS Twenty-seven (57%) patients underwent upper pole preservation with lower ureteral reconstruction; 20 (43%) patients underwent upper pole heminephrectomy. Patients undergoing lower ureteral reconstruction were older (1.63 vs 2.76 years, P = .018) and more commonly presented with lower pole vesicoureteral reflux (67% vs 25%, P = .008). No significant difference in postoperative complications was seen between the two groups. After ureteroureterostomy, one patient developed new onset symptomatic reflux to the upper pole requiring intravesical reimplantation. In the heminephrectomy group, 4 of 11 patients with ureteroceles had ureterocelectomy with concomitant lower pole reimplantation. After heminephrectomy, two additional patients required further interventions: ureterocele excision and transurethral polyp excision. CONCLUSION For patients with nonfunctional upper poles, lower tract reconstruction is a safe alternative to upper pole heminephrectomy. No significant difference in outcomes was seen. Considering that nearly 1 of 3 of patients with upper pole heminephrectomy required additional lower urinary tract procedures, pursuing upper pole preservation with lower urinary tract reconstruction may be favorable.

Vesicoamniotic Shunting Improves Outcomes in a Subset of Prune Belly Syndrome Patients at a Single Tertiary Center

Objective: Review outcomes of Prune Belly Syndrome (PBS) with the hypothesis that contemporary management improves mortality. Methods: A retrospective chart review of inpatient and outpatient PBS patients referred between 2000 and 2018 was conducted to assess outcomes at our institution. Data collected included age at diagnosis, concomitant medical conditions, imaging, operative management, length of follow-up, and renal function. Results: Forty-five PBS patients presented during these 18 years. Prenatal diagnoses were made in 17 (39%); 65% of these patients underwent prenatal intervention. The remaining patients were diagnosed in the infant period (20, 44%) or after 1 year of age (8, 18%). Twelve patients died from cardiopulmonary complications in the neonatal period; the neonatal mortality rate was 27%. The mean follow-up among patients surviving the neonatal period was 84 months. Forty-two patients had at least one renal ultrasound (RUS); of the 30 patients with NICU RUSs, 26 (89%) had hydronephrosis and/or ureterectasis. Of the 39 patients who underwent voiding cystourethrogram (VCUG), 28 (62%) demonstrated VUR. Fifty-nine percent had respiratory distress. Nine patients (20%) were oxygen-dependent by completion of follow up. Thirty-eight patients (84%) had other congenital malformations including genitourinary (GU) 67%, gastrointestinal (GI) 52%, and cardiac 48%. Sixteen patients (36%) had chronic kidney disease (CKD) of at least stage 3; three patients (7%) had received renal transplants. Eighty-four percent of patients had at least one surgery (mean 3.4, range 0–6). The most common was orchiopexy (71%). The next most common surgeries were vesicostomy (39%), ureteral reimplants (32%), abdominoplasty (29%), nephrectomy (25%), and appendicovesicostomy (21%). After stratifying patients according to Woodard classification, a trend for 12% improvement in mortality after VAS was noted in the Woodard Classification 1 cohort. Conclusions: PBS patients frequently have multiple congenital anomalies. Pulmonary complications are prevalent in the neonate while CKD (36%) is prevalent during late childhood. The risk of CKD increased significantly with the presence of other congenital anomalies in our cohort. Mortality in childhood is most common in infancy and may be as low as 27%. Contemporary management of PBS, including prenatal interventions, reduced the neonatal mortality rate in a subset of our cohort.

MP52-07 DOES THE USE OF 5 MM INSTRUMENTS AFFECT THE OUTCOMES OF ROBOT-ASSISTED LAPAROSCOPIC PYELOPLASTY IN SMALLER WORKING SPACES? A COMPARATIVE ANALYSIS OF INFANTS AND OLDER CHILDREN

INTRODUCTION AND OBJECTIVES: Near-infrared fluorescence (NIRF) technology in robotic surgery allows visualization of tissue fluorescence after giving intravenous indocyanine green (ICG). While this technology has been available for five years and has been adopted for perfusion assessment, it has not been widely adopted for achieving differential fluorescence (DF) of normal kidney versus tumors during robotic partial nephrectomy (RPN). Normal kidney fluoresces with NIRF due to bilitranslocase transport of ICG into proximal tubule cells while most renal tumors, including most renal cell carcinomas (RCC), should not fluoresce. This differential fluorescence of normal kidney and RCC allows better visualization of tumor edges and visual assessment of margins during and after tumor resection with fluorescence confirming a grossly negative margin. Most surgeons have abandoned using NIRF for DF citing inability to reliably achieve fluorescence of the kidney and not the tumor. While the dose of ICG is not critical when used to assess perfusion, improper ICG dosing will cause the tumor to fluoresce and make it indistinguishable from normal kidney. We developed an ICG dosing regimen providing reliable DF in most cases and report our success with NIRF. METHODS: RPN was performed with NIRF imaging in 253 tumors, the largest reported experience to date. Intraoperative assessment of tumor fluorescence was prospectively recorded at the time of surgery by the surgeon before pathologic assessment of tumors. The ICG dosing regimen included test doses beginning as low as 0.25cc to avoid overdosing and panfluorescence. RESULTS: Mean age was 58yrs (26-89) with mean body mass index of 32kg/m2 (18-63). Mean tumor size on imaging was 3.4cm (0.79.7) with mean R.E.N.A.L. nephrometry score of 7.3 (4-11), including 32 hilar tumors and 164 tumors >50% endophytic. Mean operative time was 170min. Among all 253 tumors, DF was successfully achieved in 217 (86%). Among 36 tumors that undesirably fluoresced, 8 were oncocytomas and 4 were chromophobe RCC, which are both known to express bilitranslocase, with 4 angiomyolipomas. Among 25 oncocytomas, 8 fluoresced such that DF was only successful in 68% of oncocytomas. Among 209 RCCs, 186 did not fluoresce (89%). Only 1 positive margin occurred (0.4%). CONCLUSIONS: Robotic NIRF imaging was highly reliable (89%) in visualizing DF of RCC versus normal parenchyma but less so in oncocytomas as expected. Further study is needed to determine whether this contributed to the <1% positive margin rate.

Pediatric medical device development by surgeons via capstone engineering design programs

BACKGROUND There is a need for pediatric medical devices that accommodate the unique physiology and anatomy of pediatric patients that is increasingly receiving more attention. However, there is limited literature on the programs within childrens hospitals and academia that can support pediatric device development. We describe our experience with pediatric device design utilizing collaborations between a childrens hospital and two engineering schools. METHODS Utilizing the academic year as a timeline, unmet pediatric device needs were identified by surgical faculty and matched with an engineering mentor and a team of students within the Capstone Engineering Design programs at two universities. The final prototypes were showcased at the end of the academic year and if appropriate, provisional patent applications were filed. RESULTS All twelve teams successfully developed device prototypes, and five teams obtained provisional patents. The prototypes that obtained provisional patents included a non-operative ureteral stent removal system, an evacuation device for small kidney stone fragments, a mechanical leech, an anchoring system of the chorio-amniotic membranes during fetal surgery, and a fetal oxygenation monitor during fetoscopic procedures. CONCLUSIONS Capstone Engineering Design programs in partnership with surgical faculty at childrens hospitals can play an effective role in the prototype development of novel pediatric medical devices. LEVELS OF EVIDENCE N/A - No clinical subjects or human testing was performed.

A Case of Obstructed Hemivagina with Ectopic Ureter Leading to Severe Hydrocolpos and Contralateral Renal Outflow Tract Obstruction in a Neonate

BACKGROUND Renal and Müllerian anomalies are frequently associated. Young age at presentation can present challenges in diagnosis and management. We report a case with an unusual presentation and management of this association in the neonatal period. CASE A 2-day-old girl had hydronephrosis with a large pelvic fluid collection. Magnetic resonance imaging of the pelvis demonstrated right hydronephrosis and uterine didelphys with an obstructed left hemivagina with hydrocolpos. A tube vaginostomy was used to decompress the vagina. Fluid was consistent with urine from an ectopic ureteral implantation from a dysgenetic left kidney, which was removed. SUMMARY AND CONCLUSION For obstructed hemivagina in a newborn, expanding fluid collections may be addressed with a drain to avoid mass effect and to aid in the diagnosis. Resection of the vaginal obstruction is performed when the patient is older. A nonfunctional kidney can be removed to eliminate fluid accumulation in the obstructed space.