New advances in the pathophysiologic and radiologic basis of the exstrophy spectrum

The exstrophy–epispadias complex is a rare spectrum of anomalies affecting the genitourinary system, anterior abdominal wall, and pelvis. Recent advances in the repair of classic bladder exstrophy (CBE) and cloacal exstrophy (CE) have resulted in significant changes in outcomes of surgical management (including higher continence rate, fewer surgical complications, and better cosmesis) and health-related quality of life in these patients. These noteworthy changes resulted from advances in the pathophysiological and genetic backgrounds of this disease and better radiologic assessment of the three-dimensional anatomy of the bony pelvis and its musculature. A PubMed search was performed with the keyword exstrophy. The resulting literature pertaining to genetics, stem cells, imaging, tissue engineering, epidemiology, and endocrinology was reviewed. The following represents an overview of the advances in basic science understanding and imaging of the exstrophy–epispadias spectrum and discusses their possible and future effects on the management of CBE and CE.     

Buccal mucosal grafts: lessons learned from an 8-year experience

PURPOSE: We evaluated our 8-year experience with buccal mucosal grafts in complex hypospadias and epispadias repair. MATERIALS AND METHODS: We reviewed the records of 29 patients in whom a total of 30 buccal mucosal grafts were placed as part of urethral reconstruction between 1991 and 1999. At surgery 16 tubes and 14 onlays were constructed and 24 of 30 repairs involved the meatus. All patients were followed at least 6 months postoperatively (median 5.3 years). Beginning in 1995 meatal design was enlarged to a racquet handle shape and patients were asked to perform meatal self-dilation for 6 months postoperatively. RESULTS: Complications developed in 17 of our 30 cases (57%) and reoperation was done in 10 (33%). All complications were evident by 11 months postoperatively except 1 that presented as recurrent stricture disease at 3 years. Complications developed in 5 and 12 of 15 patients who underwent surgery between 1995 and 1999, and before 1995, respectively (p = 0.027). No patient has had meatal stenosis since 1995. Complications included meatal stenosis in 5 cases, stricture in 7, glanuloplasty, meatal and complete graft breakdown in 1 each, and fistula in 2. Onlays were more likely to result in stricture than tube grafts (6 of 14 cases versus 1 of 16, p = 0.034). CONCLUSIONS: The complication and reoperation rates of buccal mucosal grafts are 57% and 33% at 5 years of followup. Changes in meatal design and temporary postoperative meatal dilation have improved the outcome in the last 5 years. Buccal mucosa remains a good choice in patients who require extragenital skin for urethral reconstruction.     

改良导尿管在尿道成形术患儿中的应用

目的 探讨改良导尿管对小儿尿道成形术后引流尿液,缓解患儿排尿疼痛,减少术后并发症的作用.方法 将120例尿道成形术后患儿随机均分为两组.对照组按常规方法,在新成形尿道内置一管径8～10F的多侧孔短硅胶支架管.观察组则应用8～12F改良导尿管引流尿液,即在导尿管中、下段剪多个侧孔,持续导尿10 d左右后将改良导尿管中段多侧孔段下移至新建尿道处作为短支架管,指导患儿自控排尿.结果 观察组术后排尿疼痛评分显著低于对照组,术后并发症发生率显著低于对照组(均P＜0.01);两组术后尿培养均为阴性,无尿路逆行感染.结论 应用改良导尿管引流尿液能有效缓解小儿尿道成形术后排尿疼痛,减少手术并发症.     

Single-stage subsymphyseal cystoscopic-guided bladder neck plication and urethrogenitoplasty in female epispadias: presentation of long-term follow-up

Study Type – Therapy (case series) Level of Evidence 4 What’s known on the subject? and What does the study add? Although female epispadias are considered as a rare congenital anomaly the urologist should keep the diagnosis in the back of their mind when examining a child with abnormal external genitalia or unexplained urinary incontinence in order to reach early diagnosis and subsequent prevention of bladder maldevelopment. The main goal in the management of female epispadias is satisfactory continence status with the ability of volitional micturition, together with reconstruction of cosmetically acceptable and functional external genitalia. A limitation to the previously described continence surgery in these patients is the lack of a practical intraoperative method for evaluation of the proper degree of ultimate bladder outlet resistance. For the first time, we introduced the single‐stage subsymphyseal urethrogenitoplasty along with cystoscopic‐guided bladder neck pliation technique as a real‐time intraoperative method for objective evaluation of the bladder outlet resistance, in order to improve continence outcomes and provide a safe pressure within the upper urinary tract. Considering the promising outcomes of the present method in female epispadias, it seems reasonable to defer more invasive currently used approaches and classic continence surgeries, until the outcome from this procedure is evaluated.

OBJECTIVE

? To investigate the feasibility of an endoscopic technique as a guide to evaluate bladder outlet resistance during bladder neck plication (BNP) for treatment of female epispadias.

PATIENTS AND METHODS

? The postoperative outcomes with long‐term follow‐up of 10 girls with epispadias were reviewed (four had a previous history of bulking agent injection into the BN). ? After taking a skin flap from the area between the crura of the bifid clitoris, subsymphyseal dissection was continued to the BN. ? Under cystoscopic guidance, BNP was performed using absorbable sutures (two cases) or non‐absorbable sutures (eight) aiming to attain a smooth closure of the BN during gradual withdrawal of the cystoscope. ? Finally, urethrogenitoplasty was accomplished by urethral reconstruction with tubularization of the inter‐clitorial flap followed by monsplasty and approximation of the two hemi‐clitorises.

RESULTS

? The mean (range) follow‐up was 9.1 (5–15) years. ? After primary surgery seven of the 10 girls were continent and all could void normally. ? Of the three failed cases (including two that underwent BNP using absorbable suture), two became dry after injection of bulking agent into the BN and the remaining girl underwent BN reconstruction; she was socially continent at the final follow‐up. ? Ultimately, all 10 girls were socially continent, including six who were completely dry. ? Urodynamic studies showed an increase in mean bladder capacity (P < 0.001) and a significant time‐dependent improvement of the leak‐point pressure and maximum urinary flow rate.

CONCLUSIONS

? The present series suggests that single‐stage subsymphyseal urethrogenitoplasty together with cystoscopic‐guided BNP for management of female epispadias is reliable and effective with definite advantages. ? The high success rate and safety of the procedure are important factors for the introduction of this method as a valid option for treatment of this rare congenital anomaly.     

Pelvic Floor Reconstruction in Female Exstrophic Complex Patients: Different Results from Males?

OBJECTIVES: To present the surgical, functional, and cosmetic results of anterior pelvic floor reconstruction in female exstrophic patients who underwent single-stage surgical repair. To verify differences in outcome from male exstrophic patients. METHODS: Among the 31 exstrophy-epispadias complex (EEC) patients treated in 10 yr, 13 (42%) were females. We studied 10 of them (9 classic exstrophies and 1 prolapsing epispadia), aged 2 d to 6 yr, who received one-stage repair with pelvic floor reconstruction. The reconstructive steps were posterior pelvic osteotomy, en bloc mobilisation of bladder neck-urethra/vagina within the midline pelvic floor, symmetrical reassembly of the muscular complex that constitutes the pelvic diaphragm (using a bipolar stimulator), tubularisation and elongation of the bladder neck and urethra, and genitoplasty. At 2- to 3-yr follow-up, bladder capacity and dry intervals were evaluated by cystogram and urodynamic study, respectively. Surgical complications and cosmetic appearance were also assessed. Results were compared with a group of 18 male EEC patients treated in the same period with similar technique. Fisher exact test and chi-square test were used for statistical analysis. RESULTS: No bladder/urethra dehiscence, exstrophy relapse, or uterine procidentia were observed. Cosmesis was fully satisfying in all. Bladder capacity ranged from 35 to 137 ml (mean: 87). Cyclic voiding with 45- to 90-min dry intervals was achieved in 7 patients (70%), but stress incontinence was present in 5 patients. Volitional micturition control was achieved in 5 of 6 (83.3%) girls aged 4-8 yr. In the male group, we observed two surgical complications (glans disruption and urethrocutaneous fistula) and one poor cosmetic outcome. Mean bladder capacity was 70 ml (range: 25-140). Dry intervals were present in 6 patients (33%). Volitional voiding was achieved in 5 of 12 (40%) male exstrophic patients older than 4 yr, with little stress incontinence. Female and male EEC patients presented significantly different outcomes (p<0.05) regarding both surgical complications and functional bladder behaviour. CONCLUSIONS: Pelvic floor reconstruction and its correct relationship with the lower genitourinary tract may facilitate the development of volitional micturition control. Female patients behaved slightly better than males concerning dry intervals and coordinated bladder activity achievement.     

Urologic complications of major genitourinary reconstruction in the exstrophy–epispadias complex

ObjectiveTo present the authors' experiences with urologic complications associated with various techniques used to create a continent stoma (CS), augmentation cystoplasty (AC), and neobladder in the exstrophy–epispadias complex (EEC) population.MethodsRetrospective review of medical records of patients who underwent CS with or without bladder augmentation were identified from an institutional review board-approved database of 1208 EEC patients. Surgical indications, tissue type, length of hospital stay, age, preoperative bladder capacity, prior genitourinary surgeries, postoperative urological complications, and continence status were reviewed.ResultsAmong the EEC patients reviewed, 133 underwent CS (80 male, 53 female). Mean follow-up time after initial continent stoma was 5.31 years (range: 6 months to 20 years). Appendix and tapered ileum were the primary bowel segments used for the continent channel and stoma in the EEC population. The most common stomal complications in this population were stenosis, incontinence, and prolapse. Seventy-nine percent of EEC CS patients underwent AC primarily done with sigmoid colon or ileum. Eleven patients (8%) underwent neobladder creation with either colon or a combination of colon and ileum. Bladder calculi, vesicocutaneous fistula, and pyelonephritis were the most common non-stomal complications. Stomal ischemia was significantly increased in Monti ileovesicostomy compared to Mitrofanoff appendicovesicostomy in classic bladder exstrophy patients (p = 0.036). Furthermore, pyelonephritis was more than twice as likely in colonic neobladder than all other reservoir tissue types in the same cohort (OR = 2.53, 95% CI: 1.762–3.301, p < 0.001).ConclusionsTo the best of the authors' knowledge, this is the largest study examining catheterizable stomas in the exstrophy population. While Mitrofanoff appendicovesicostomy is preferred to Monti ileovesicostomy because it is technically less challenging, it may also confer a lower rate of stomal ischemia. Furthermore, even though ileum or colon can be used in AC with equally low complication rates, practitioners must be wary of potential urologic complications that should be primarily managed by an experienced reconstructive surgeon.     

22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex

The bladder exstrophy–epispadias complex (BEEC) comprises of a spectrum of anterior midline defects, all affecting the lower urinary tract, the external genitalia, and the bony pelvis. In extreme cases, the gastrointestinal tract is also affected. The pathogenesis of BEEC is unclear but chromosomal aberrations have been reported. In particular, duplications of 22q11.2 have been identified in eight unrelated individuals with BEEC. The current study aimed to identify chromosomal copy number variants in BEEC. Analyses was performed using the Affymetrix Genome‐wide SNP6.0 assay in 92 unrelated patients cared for by two UK pediatric urology centers. Three individuals had a 22q11.2 duplication, a significantly higher number than that found in a control group of 12,500 individuals with developmental delay who had undergone microarray testing (p < .0001). Sequencing of CRKL, implicated in renal tract malformations in DiGeorge syndrome critical region at 22q11, in 89 individuals with BEEC lacking 22q11 duplications revealed no pathogenic variants. To date, 22q11.2 duplication is the genetic variant most commonly associated with BEEC. This is consistent with the hypothesis that altered expression of a single, yet to be defined, gene therein is critical to the pathogenesis of this potentially devastating congenital disorder.