Exstrophy Research Articles

Single-staged male bladder exstrophy-epispadias complex reconstruction with pubic bone adaptation without osteotomy: 15-year single-center experience.

To represent the 15years' experience of an academic referral center for the reconstruction of bladder exstrophy-epispadias complex with a modified single-stage approach. Single-staged reconstruction techniques are commonly used for classic bladder exstrophy. However, combined bladder closure and epispadias repair have been taken into great consideration in patients with initially failed reconstruction or delayed primary closure. A total of 49 boys underwent 1-stage bladder and epispadias repair with pubic bone adaptation and without the application of pelvic osteotomy. The mean ± SD age at surgery was 5.23 ± 2.04months. Continence and social dryness were assessed in the follow-ups with 3months intervals for the first year and biannually thereafter. The mean ± SD of follow-up was 127.25 ± 71.32months. Urethrocutaneous fistula, stricture, wound infection, and hemiglans were developed in six distinct patients. However, no other major complications were noted. Three patients (6.1%) remained incontinent; while 32 (65.3%) children were socially continent and 14 (28.6%) children were waiting for toilet training. All the patients without previous failed closure were socially continent, while all incontinent patients had two failed closures in their history. No patient was rendered hypospadiac. Based on the experience of this institution, the application of single-stage reconstructive techniques can lead to continence, cosmetically pleasing appearance with promising outcomes, and reduction of overall operations, hospital stay and costs in the majority of cases as compared to multiple surgical procedures.

Management of Untreated Classical Bladder Exstrophy in Adults: A Single-Institutional Experience

To report our single center experience in the management of untreated adult classical bladder exstrophy. A retrospective review of 25 adults aged ≥18 years who underwent repair of the classical bladder exstrophy from April 2000 to February 2020 was performed. Patients with prior repair and neoplastic changes in the exposed bladder mucosa were excluded. The patients and primary caretakers were actively involved in the decision-making of the surgical procedures best suited them. Work-up included upper tract evaluation and random bladder mucosal biopsy. The mean age of presentation was 25 years. Primary schooling was completed by only 32% patients. The majority (72%) of the patients opted continent catheterizable pouch. Penn pouch was the most common pouch performed. In 3 patients, a complete primary repair was done in a single setting. In 4 patients with lack of education and difficult access to nearby health care settings, ileal conduit was performed. In all except 3 (13.1%), abdominal wall closed primarily. None of the patients required osteotomy. At a mean follow-up of 6.5 years, all patients with continent pouches were continent. One patient required revision of left ureteroneocystostomy at 20 months follow-up. All except one patient, who had complete primary repair were continent at a mean follow-up of 6 years. Management of adult classical bladder exstrophy is challenging. The various pouches extend the surgical options. Ileal conduit may be a simple alternative to complex reconstructions in unmotivated patients with poor access to the hospital.

Comparing 30-day outcomes between early versus delayed repair of anorectal malformations with perineal or rectovestibular fistulas: An analysis of the ACS NSQIP-Pediatric database

BackgroundAnorectal malformations (ARMs) have a wide spectrum of presentation ranging from mild defects with perineal fistulas to more severe defects requiring complex management. A primary repair of ARMs with perineal or rectovestibular fistulas has been shown to have good outcomes. However, the timing of the reconstruction is still debated. The aim of this study is to investigate the safety of early versus delayed repair. MethodsThis study was performed using data from the National Surgical Quality Improvement Program-Pediatric (NSQIP-P) from 2012 to 2017. Patients who underwent repair of anorectal malformation with perineal or vestibular fistula were included in the study. Patients with associated diagnosis for Hirschsprung disease, cloaca, rectal prolapse or stenosis, bladder exstrophy, and tracheoesophageal fistula were excluded. 30-day postoperative outcomes included wound and nonwound complications, readmissions, and reoperations. Outcomes were compared by early (≤7 days of age) versus delayed repair (6 weeks to 8 months). ResultsA total of 291 patients were included, with 66 in the early and 231 in the delayed group. Patients in the early group were more likely to be male (68.2% vs 31.8%; p < 0.01) and have cardiac risk factors (71.2% vs 49.4%, p < 0.01). The mean operative time was significantly shorter in the early group (90.1 vs 129.6 min; p < 0.01). 30-day complications were not statistically significant between the two groups (p = 0.76). After multivariate analysis, timing of repair did not affect 30-day complications (p = 0.15). ConclusionOur study shows that early repair of low anorectal malformations with a perineal or vestibular fistula appears to be associated with no increase in risk of postoperative complications as compared to delayed repair. At present, the decision remains dependent on the surgeon's experience and judgment. Level of evidenceLevel III. Retrospective comparative study.

Assessment of the anterior osteotomy role in the restoration of normal pelvic floor anatomy for bladder exstrophy patients using pre and postoperative pelvic floor MRI

Our aim was to evaluate the effectiveness of anterior osteotomy in the restoration of normal pelvic floor anatomy in classic bladder exstrophy repair using pelvic floor MRI as an imaging tool for evaluation. This study is a pilot prospective randomized controlled study that included 20 infants with classic bladder exstrophy older than three months with no history of previous surgical operations. All patients underwent complete primary repair and were randomized into two groups, with or without osteotomy. Both groups were assessed preoperatively & postoperatively after three months with pelvic floor MRI and compared to age & gender-matched control group infants with normal pelvic anatomy infants who underwent pelvic MRI for other medical conditions. There was not any significant statistical difference between osteotomy and non-osteotomy groups in pre-operative demographic data and all pelvic floor MRI measurements, emphasizing that both groups were equal in all characters at the start point of the study before the operation. The mean change difference between pre-operative and post-operative pelvic floor MRI measurements were compared in both groups, and there was not any significant statistical difference in all pelvic floor MRI measurements. Both groups showed the same statistical significance when compared with the control group in all pelvic floor MRI measurements except the posterior bladder neck distance, which was in favor of the osteotomy group, closer to the normal pelvic floor anatomy. Anterior osteotomy did not have a significant difference in the restoration of the normal pelvic floor anatomy when combined with complete primary repair of classic bladder exstrophy in newly diagnosed neonates older than three months, except for a single measurement, posterior bladder neck distance. Future studies needed to determine the effect of osteotomy on continence.

Delaying primary closure of classic bladder exstrophy: When is it too late?

With current trends towards delaying the closure of classic bladder exstrophy (CBE), bladder growth rate or ultimate capacity may be impacted. To examine consecutive bladder capacities in CBE patients who had primary closures at differing ages and determine whether there is an optimal age for closure, with reference to bladder capacity. A retrospective review was performed using an institutional database. CBE, successful neonatal (i.e. ≤28 days old) or delayed (i.e. >28 days old) primary closure, at least three consecutive bladder capacities or two measures taken 18 months apart, and first bladder capacity measured ≥3 months after closure. Only capacities prior to continence surgery and before 14 years of age were considered. Two cohorts were created: neonatal and delayed closure. To account for repeated measurements per patient, a linear mixed model evaluated effects of age and length of delay on bladder capacity based on closure cohort. Individuals in the delayed closure group were further stratified into quartiles to assess for detriment to the bladder based on length of delay. The cohort included 128 neonatal and 38 delayed patients. Median age at closure for the delayed group was 193 days (IQR 128-299). Based on univariate analysis, for the first three capacity measurements, the delayed group had significantly lower capacities despite having a similar median age when the measurements were taken. Linear mixed effects model showed significantly decreased total bladder capacity in delayed closure compared to neonates. The 2nd and 4th quartile groups had the most significant decreases in capacity. Time points for the most significant decline appear after the 2nd and 4th quartiles, representing 4-6 months and beyond 9 months, respectively. From this, the authors theorize that the appropriate time to close an exstrophy patient is as early as possible (1st quartile), or, if a delay is needed for growth of a bladder template, then between 6 and 9 months (3rd quartile). There may be a detriment to growth rate, however, statistical power may be lacking to discern this. Study limitations include the single-centered, retrospective design. However, results described here fill an important deficit in the knowledge of managing CBE. All patients in the delayed bladder closure group demonstrated a decline in bladder capacity compared to the control neonatal closure group, with significant differences in the 2nd and 4th quartiles. Thus, closing the bladder prior to nine months of age is recommended.

Volumetric and acetabular changes in the bony pelvis associated with primary closure of classic bladder exstrophy

Repair of classic bladder exstrophy (CBE) is known to alter dimensions of the bony pelvic ring. Pelvic volume and acetabular configuration are additional metrics which merit analysis in the reconstruction process. Advances in magnetic resonance imaging (MRI) allow for precise elucidation of such anatomy in pediatric patients, providing enhanced knowledge of how primary reconstruction may impact factors in pelvic health. An IRB-approved exstrophy-epispadias database of 1337 patients was reviewed for patients with CBE who had pelvic MRI performed before and after repair. Pelvic MRIs were analyzed by a pediatric radiologist, and three-dimensional volumetric renderings of the true pelvis were calculated. Pre- and post-closure imaging were compared, in addition to imaging from age-matched controls without pelvic pathology. Cartilaginous acetabular index and version angles were also calculated and compared between groups. Eighteen patients with post-closure imaging, 14 of whom also had pre-closure imaging, and 23 control patients (ages 0-365 days) were included. The median ages at pre- and post-closure scan were 2 and 178 days, respectively. Osteotomy was performed in 6 (33%) of the closures. The median segmented pelvic volumes were 89cm3 in the pre-closure group, 105cm3 in the post-closure group, and 72cm3 in the control group. At a given age, patients with CBE pre-closure had the largest pelvic volume, and those without bladder exstrophy demonstrated the smallest pelvic volumes (Summary Figure). CBE patients' pelvic volumes were overall lower following repair, relative to age (p=0.007). Cartilaginous acetabular version angle increased following closure, with acetabular orientation converting from retroversion to anteversion in all cases. However, only acetabular version angles were significantly different between groups. This study found that pelvic volume significantly decreased relative to age following primary repair of CBE, but that it did not correct to control levels. Similarly, acetabular retroversion that is naturally seen in exstrophy patients was converted to anteversion post-closure but did not become completely normal. Knowledge of these persistent anatomical anomalies may be useful in treatment of future concerns related to exstrophy, such as continence achievement, pelvic organ prolapse, and potential gait disturbances. Lack of significant differences between study groups regarding acetabular index angles can give assurance to providers that hip dysplasia is neither a natural concern nor iatrogenically inflicted through reconstruction. The primary closure of exstrophy results in pelvic volumes and anteverted acetabula that more closely resemble those without bladder exstrophy, compared to pre-closure findings.

SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Previous studies in developing Xenopus and zebrafish reported that the phosphate transporter slc20a1a is expressed in pronephric kidneys. The recent identification of SLC20A1 as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of SLC20A1 in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog slc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detected SLC20A1 in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequenced SLC20A1 in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelic de novo variants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novel de novo variant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact of SLC20A1 variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggest SLC20A1 is involved in urinary tract and urorectal development and implicate SLC20A1 as a disease-gene for BEEC.

Key anatomic findings on fetal ultrasound and MRI in the prenatal diagnosis of bladder and cloacal exstrophy

Prenatal determination of bladder exstrophy (BE) or cloacal exstrophy (CE), known also as the omphalocele-exstrophy-imperforate anus-spinal anomaly complex (OEIS), is challenging. Distinguishing between BE and CE is important because children with CE have many more challenges initially and during their lifetime. An accurate diagnosis is critical when counselling expectant parents. We hypothesized that there are key imaging features that can distinguish BE from CE, and that there are areas of diagnostic concordance and discordance between fetal ultrasound (fUS) and fetal MRI (fMRI) among these entities. We queried a single institutional IRB-approved registry of children with BE and CE to identify those with accessible fetal imaging from 2000 to 2018, and formal interpretations were collected. Two pediatric radiologists performed independent retrospective blinded review of the images. Criteria evaluated included: genitalia, kidneys, bowel appearance, presence of anal dimple, location of insertion of umbilical cord into the abdomen relative to the abdominal wall defect, umbilical vessels, bladder protuberance, presence of omphalocele, and spine/neural cord abnormalities. We evaluated concordance between radiologic interpretations and postnatal diagnosis, as well as between specific findings in the two diagnostic modalities. Twenty-one infants born between 2000 and 2018 with BE or CE had fetal imaging for review: 15 had both fUS and fMRI, 2 had fUS alone, and 4 fMRI alone. There was 100% concordance between fUS and fMRI in evaluating kidneys, presence of anal dimple, location of abdominal insertion of umbilical cord relative to the defect, number of umbilical vessels, and spine abnormalities/level of neural cord termination. The following discrepancies were observed: 1) genitalia and bowel appearance, and bladder protuberance in 1/15 (6.7%); 2) presence of an omphalocele in 2/15 (13.3%). Of the initial radiologic interpretations, 4/17 (23.5%) of fUS and 2/19 (10.5%) of fMRI erroneously were interpreted as on the OEIS spectrum when the post-natal diagnosis was BE. Errors in diagnosis were due to a protuberant bladder plate extending beyond the plane of the abdominal wall with bowel loops posteriorly mimicking an omphalocele. In all of these BE cases, the abdominal wall defect was located inferior to the umbilical cord insertion on the abdominal wall. An everting bladder plate with bowel loops posterior to the plate in classic BE may be misdiagnosed as CE. Identification of the location of umbilical cord insertion relative to the abdominal wall defect, with fetal US or MRI, results in the correct differentiation between BE and CE.

Outcomes of inflatable penile prosthesis insertion using a neotunica allograft in neophalluses of patients on the bladder exstrophy–epispadias complex spectrum

Men born on the bladder exstrophy-epispadias complex (BEEC) spectrum may undergo neophallus reconstruction with a variety of free flaps, most commonly radial forearm. In order to achieve erectile function, a penile prosthesis may be inserted following neophallus construction. In this study, we sought to describe the perioperative and clinical outcomes of inflatable penile prosthesis (IPP) insertion into neophalluses of patients along the BEEC spectrum. Using a prospectively maintained institutional BEEC database, patients who had undergone both neophallus creation and IPP placement were identified for this study. Surgery was performed by two surgeons with expertise in IPP implantation. Operative details and postoperative outcomes and complications were collected with review of the medical record. Overall, there were a total of 13 men who underwent neophallus reconstruction with subsequent IPP placement. Of these men, 76.9% (10/13) had experienced successful primary closure in childhood. One patient had corporal loss secondary to complete primary repair of exstrophy (CPRE) following a failed primary attempt. The average age at IPP placement was 23.2 years (SD±5.06). Mean OR time (n=11) was 244.8min (SD±46.2). 76.9% (10/13) of the cases used AlloDerm™ as a neotunica albuginea for support of the IPP. Three patients (23.1%) experienced complications all of which required revision surgery. Two of these complications were erosions in patients for whom AlloDerm™ was not used in the initial IPP placement. The results of this study suggest that IPP placement in neophalluses of males on the BEEC spectrum have low perioperative and postoperative morbidity with successful outcomes. While the rate of complications is notably higher in this group compared to the native penis IPP literature, the use of AlloDerm™ or other allograft materials may help to narrow this gap. IPP placement in neophalluses of men on the BEEC spectrum is successful in the majority of cases. Complications may be reduced with the use of AlloDerm™ in initial placement.

Development of Late Continence in Bladder Exstrophy and Epispadias Patients

To evaluate to what extend urinary continence develops during puberty in patients with classic bladder exstrophy (CBE) and epispadias. The operative database was reviewed for surgical procedures and urinary continence in all 65 CBE and epispadias patients born in 1976-2005. Excluded were 2 patients who had insufficient data for evaluation. Thirty-five patients with volitional voiding were incontinent at the age of 10 years, 27 had daily incontinence, and 8 had rare incontinence. Sixteen patients (46%) became later fully continent without any major surgery (except Deflux injections in 3 patients) or CIC treatment. Among these 16 fully continent patients there were 7/8 with rare incontinence, 9/23 with daily incontinence (P=.04); 3/9 males with CBE, 10/13 males with epispadias, 3/5 females with CBE, and 0/4 females with epispadias (P=.25 between sex and P=.48 between diagnosis). Of the 15 patients remaining incontinent, 10 had daily and 5 had rare incontinence episodes. The latest control was at the median age of 19 years (interquartile range 17-21 years). Twenty-five patients (40% of the whole material) were fully continent (11/38 (29%) with CBE and 14/25 (56%) with epispadias, P=.04) and 8 (13%) had rare incontinence with volitional voiding (1/38 [3%] with CBE and 7/25 [28%] with epispadias). Almost half of the incontinent CBE and epispadias patients with volitional voiding achieved continence after the age of 10 without major surgery. Prognosis for pubertal development of continence was best in patients with rare incontinence and in males with epispadias.

PT275 - Outcome reporting in bladder exstrophy – a systematic review, and proposal of reporting template

PT275 - Outcome reporting in bladder exstrophy – a systematic review, and proposal of reporting template

Patient-reported outcomes in adult females with bladder exstrophy: A study of long-term sexual, reproductive and urinary outcomes using social media

Limited data exist on patient-reported outcomes in adults with bladder exstrophy (BE). We partnered with the Association for the Bladder Exstrophy Community (A-BE-C) using social media to survey adult females with BE. The aim of the study was to assess long-term patient-reported sexual, reproductive and continence outcomes. Between December 3, 2018 and January 18, 2019, A-BE-C promoted an anonymous survey of adult females with BE on social media. The survey included the Female Sexual Function Index (FSFI) and International Consultation on Incontinence Questionnaire - Short Form (ICIQ-SF) in addition to questions on demographics, reproductive and gynecological outcomes. A total of 130 women with a median age of 30 years (IQR 26, 41) completed the survey. The majority of women were born in the United States (N=86, 66.2%). Women reported a median of 10 (IQR 5, 17) surgeries performed for their condition. The mean ICIQ-SF score was 6.2±6.2 (moderate). Only 19.2% (N=25) reported volitionally voiding and the majority reported intermittent catheterization through a catheterizeable channel or the urethra (Summary Table). The mean FSFI score was (20.1±9.0), indicating risk for sexual dysfunction (FSFI<26.55). Of the respondents, 28.5% (N=37) were treated for uterine prolapse, 56.9% (N=74) required surgery in order to use tampons or have penetrative intercourse, and over half (55.4%) reported some degree of dissatisfaction with the appearance of their external genitalia. Forty-seven women (36.2%) reported pregnancies, and of these 32 (68.1%) reported complications with pregnancy. Outcomes of 100 pregnancies included miscarriage/abortion (41.0%), preterm vaginal (3.0%), preterm cesarean section (19.0%), term vaginal (2.0%), and term cesarean section (35.0%). Seven (15.2%) women identified having children with a medical diagnosis, none of which included BE. Infertility was reported in 17.3% (22/127) women. Women identified sexual function, fertility, and body image as areas that need future research. This is the largest study of patient-reported outcomes in females with BE achieved through partnership with an advocacy group and social media. We found that continence and sexual function were both impaired in adult women with BE. Respondents reported poor obstetric and gynecological outcomes including infertility, uterine prolapse, vaginal stenosis, and need for multiple surgeries. BE surgeons, through multi-institutional collaboration, should continue to reassess surgical techniques at initial repair to better address these functional issues. These results should be a part of counseling parents of newborns with BE.

Commentary to ‘Continence after BNR in the complete repair of bladder exstrophy (CPRE): A single institution expanded experience'

Commentary to ‘Continence after BNR in the complete repair of bladder exstrophy (CPRE): A single institution expanded experience'

Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.

The aim of this study was to analyse the characteristics of the prenatal diagnosis (PD) of birth defects (BDs) and termination of pregnancy (TOP) for fetal anomalies and to suggest perinatal management. BD surveillance data were collected from 52 registered hospitals in Hunan between 2015 and 2018. The PD and TOP rates of BDs were calculated to examine the associations between infant sex, maternal age, and region. From 2015 to 2018, a total of 18 931 fetuses with BDs were identified, of which 10 299 fetuses (54.4%) were diagnosed prenatally and 9343 pregnancies (90.7% among PDs and 49.3% among BDs) were terminated. The mean gestational age at diagnosis for fetuses with BDs was 25.1 ± 5.9 weeks and showed a downward trend over the study period. The average PD rate of the BDs was higher in rural areas than in urban areas (58.1% vs 50.3%), higher for female than male fetuses (57.25% vs 48.92%), and higher for mothers older than age 35 than for those younger (58.62% vs 53.69%). The average TOP rate of fetuses with BDs in rural areas was higher than that in urban areas (91.99% vs 89.12%) and decreased with increasing maternal age ( = 7.926, P = .005). The five BDs with the highest PD rates were conjoined twins (100%), anencephaly (97.87%), congenital hydrocephalus (97.66%), chromosomal malformation (96.07%), and encephalocele (95.54%). The five BDs with the highest TOP rates among the PDs were conjoined twins (100%), exstrophy of the urinary bladder (100%), chromosomal malformation (98.09%), encephalocele (98%), and anencephaly (97.28%). More than half of BDs were diagnosed prenatally, with the majority diagnosed at less than 28 gestational weeks. The TOP rates following PD in Hunan Province were high, especially for rural and younger mothers. The findings suggest a need for high-quality, targeted counselling following PD.

A case report on continent isolated male epispadias.

Epispadias is a rare congenital anomaly in which the urethral opening is on the dorsal surface of penis. Its incidence is 1 in 117000 newborn males and 1 in 484000 in newborn females. Its etiology is considered as because of failure of medial migration of mesenchyme between the ectodermal and endodermal layers of cloacal membrane due to premature rupture of cloacal membrane. Epispadias often presents as exstrophy epispadias complex, a wide spectrum of abnormalities that consist of classic bladder exstrophy, Epispadias and cloacal exstrophy. This case was not a part of exstrophy epispadias complex and it was an isolated continent epispadias which is extremely rare and it was managed with Cantwell Ransley epispadias repair technique.

The search for continence in bladder exstrophy: Bladder neck transection and Macedo catheterizable reservoir to augment the nativebladder

IntroductionBladder exstrophy remains one of the most challenging abnormalities in pediatric urology. We propose bladder neck transection and bladder augmentation with a catheterizeable reservoir technique to achieve continence after previous anatomic reconstruction in stages. MethodsAt the age of 5–6 years, we offer the transection of bladder neck and enterocystoplasty to achieve continence. We report on a 6-year-old boy that underwent this procedure. We perform the reservoir from ileum according to Macedo-technique that constructs a catheterizeable channel from the same bowel segment. The continence mechanism of the efferent tube is based on angulation and a serous lined tunnel created with 3.0 prolene sutures. The stoma is placed in the midline. ResultsPatient had an uneventful evolution and is continent performing CIC every 4 h with 9 months of follow up. DiscussionIn spite of continuous development of bladder exstrophy surgery, the urethral continence and voluntary micturition is still not possible in the majority of patients. We discuss with our patients honestly and offer this method as a viable alternative to achieve continence. ConclusionIn our experience, most patients accept urethral transection and suprapubic CIC when educated about results with other alternatives of bladder neck plasty.

Initial Experience of Pediatric Urology Consortium in Taking Care of Children with Bladder Exstrophy: the Search for the Holy Grail

The bladder exstrophy-epispadias complex is a very rare and complex spectrum of congenital anomalies. The holy grail of treatment for BEEC is volitional voiding with preservation of the upper tracts and patient satisfaction. The development of a collaboration can increase the exposure and experience for a panel of surgeons to better improve the care of babies with this anomaly, both in the surgical correction and in the pre- and post-operative care. The reported outcomes after exstrophy repair vary widely due to different approaches to closure as well as the variable outcome measures used to report experiences. While it is yet too soon to report on final continence outcomes, over the last 6 years, a collaboration between three institutions has increased by three-fold the experience for every individual under the guidance of an experienced coach. The treatment of patients with bladder exstrophy and epispadias is a complex anatomic and physiologic process that requires careful attention to a precise surgery while also focusing on the long-term growth of the bladder and keeping the upper tracts safe. This collaboration, which is predicated on a dedicated team with a focused target, has increased experience and exposure to exstrophy for all institutions.

Demographics and baseline care among newly transitioning adult congenital urology patients

In 2017, UCSF established a formal Transitional Urology (TU) clinic co-run by pediatric and adult urology aimed at providing comprehensive urologic care for people progressing into adulthood with complex urologic histories. We aim to describe baseline demographic and disease characteristics of this population, understand gaps in care, and gauge follow-through. We performed a retrospective chart review of all new patients in the TU clinic at UCSF from February 2017 through January 2019. After approval from an institutional review board, demographic and clinical data were collected from medical records. 39 new patients were seen in UCSF's TU clinic during a 23-month period. Our cohort included 20 patients with spina bifida and neurogenic bladder, 5 with bladder exstrophy, 3 with disorders of sexual development (DSD), 5 with obstructive uropathy, 2 with cloacal anomalies, and 1 patient each with calcinuria, reflux nephropathy, prune belly syndrome, and urachal cyst. Mean age of patients was 26 years, 63% were male, 88% spoke English, and 70% had public insurance. Patients lived an average of 94 miles from the clinic and had a mean zipcode-based household income of $70,110. There was an average of 19 months between the initial TU visit and the most recent prior urology visit. The median time since last creatinine as well as last renal ultrasound was 9 months. 19 (54%) patients warranted a total of 28 referrals to other providers at their initial visit, and 42% of these were obtained within 6 months. According to our demographic data, TU patients are likely to have public insurance, live far from the TU clinic, and come from low SES backgrounds. At initial presentation over half of patients warranted updated tests like creatinine and renal ultrasound. Furthermore, nearly two-thirds of patients required at least one referral to a different provider, suggesting a majority of these patients had unmet medical needs at the time of presentation to the TU clinic. Our data indicate that new patients to the TU clinic often warrant additional workup, updated testing, and referrals to sub-specialty care as these needs are often unmet at the time of presentation. The etiology of this is unclear and it may be due to insurance difficulties, inability to identify an appropriate adult subspecialty provider or access to care issues. Further investigation into barriers to implementation of transitional care is needed to provide comprehensive management to this challenging patient population.

Evaluation of outcomes following complete primary repair of bladder exstrophy at three individual sites prior to the establishment of a multi-institutional collaborative model

The Multi-Institutional Bladder Exstrophy Consortium (MIBEC) was established in 2013 to refine technical aspects of the complete primary repair of bladder exstrophy (CPRE), to decrease complications, and to improve outcomes. In order to place outcomes from the consortium into context of historic outcomes, we evaluated continence and dry intervals in children who were repaired prior to the beginning of the consortium at these institutions. We hypothesized that continence (voiding with dryness) is rarely achieved after primary CPRE and surgery following CPRE improves dryness but may hinder voiding per urethra. We reviewed prospectively maintained IRB approved databases of children who underwent CPRE for classic bladder exstrophy (BE) between 5/1993 and 1/2013at 3 institutions. Exclusion criteria included: lack of continence documentation, and lack of follow up subsequent to January 2014. We recorded age at closure, method of bladder emptying, bladder capacity and surgical history. We used a 3 part dryness scale for both patients who void volitionally and those on CIC. Children were considered dry if they could hold urine for over 3h. An intermediate group was defined as having a dry interval of 2-3h, with minimal dampness in between voids. If dry intervals were <2h with frequent leakage, children were considered wet. A total of 54 of 73 (38M) children met inclusion criteria. 35 of 54 (64.8%) children void per urethra, while 18 (33.3%) perform clean intermittent catheterization (CIC) and 1 underwent a vesicostomy due to incomplete emptying and UTI's. 25/35 (71.4%) of those voiding per urethra underwent CPRE only, while the remaining 10 underwent secondary continence procedures. In total, 26 of 54 (48.1%) are dry, that is either continent or not wet for>3h, while only 11/54 (20.4%) are truly continent, i.e., voiding per urethra. Only 9/54 (16.7%) are continent after a single surgery (CPRE). 14/54 children who are dry (25.9%) underwent a bladder neck procedure with or without augmentation and empty with CIC. Granular detail about the specifics of emptying, surgical history, and dry intervals is crucial to understand the true outcomes from the repair of BE. Children with BE undergoing CPRE prior to the institution of MIBEC experienced variable results, with only 17% achieving continence while spontaneously voiding per urethra without additional reconstruction. We are now engaged in MIBEC to identify factors that contribute to continence and to attempt to render such findings reproducible.

Continence after BNR in the complete repair of bladder exstrophy (CPRE): A single institution expanded experience

Several surgical methods have been used for primary repair of bladder exstrophy in the newborn. Complete primary repair of exstrophy (CPRE) aims to prevent the need for surgeries beyond the newborn period. Due to the rarity of bladder exstrophy, it has proven difficult in the past to analyze whether use of this method of closure truly does confer acceptable continence outcomes and hence minimizes the requirement for additional surgeries later in life. To describe the continence outcomes of CPRE patients who went on to receive bladder neck reconstruction (BNR), and secondarily, to compare clinical features between those patients who were able to receive undergo a BNR compared to those who were not. An IRB approved database of 1330 exstrophy-epispadias patients was used to identify referred patients after successful CPRE for management of continued urinary incontinence. Urinary continence outcomes were assessed in those who underwent modified Young Dees Leadbetter BNR following CPRE. Sixty-one patients were referred for treatment after successful CPRE between 1996 and 2016. None developed continence or a dry interval after primary closure. Of these, forty-two (68.9%) underwent BNR by a single surgeon at a mean age of 5.8 years (range 5-8.4). The mean bladder capacity at BNR was 147mL (range 102-210mL). Twenty-five (59.5%) achieved day and night continence, 7 (16.7%) gained daytime continence with nocturnal leakage, and 10 (23.8%) remain totally incontinent. Mean follow-up after BNR was 5.9 years. Combined CPRE and pelvic osteotomy were performed in 100% of patients who were continent and 75% of those who were daytime dry. No continent patient had a ureteral reimplantation before BNR, whereas 4 patients with daytime continence and nocturnal leakage and 7 patients who remained continuously incontinent did. This is the largest known series of BNRs in exstrophy patients closed by CPRE. Previous smaller studies have demonstrated mild to moderate success rates of BNR after CPRE, with many patients still requiring additional continence surgeries. The present study found similar results, with additional indication that successful primary closure and use of pelvic osteotomies may correlate with enhanced continence. This study includes outcomes from a single surgeon, with a maximum length of follow up of 13 years. CPRE alone often does not render patients continent of urine, based on the authors' referral population. However, following BNR continence rates in this subgroup were found to reach 76%. Surgeons who treat this population should keep these factors in mind when planning continence surgeries.