Exstrophy and Epispadias Treatment & Management

Updated: May 03, 2022
  • Author: Chad B Crigger, MD, MPH; Chief Editor: Marc Cendron, MD  more...
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Treatment

Medical Care

For neonates with exstrophy and epispadias, general supportive care appropriate for the overall condition and any associated anomalies should be instituted. For patients with cloacal exstrophy, nutrition is important (and often challenging); accordingly, parenteral nutrition is often started early.

In the period between delivery and reconstruction, the bladder template should be gently irrigated with saline to moisten it and then covered with plastic wrap (see the image below). Moistened or impregnated gauze is irritating to the delicate bladder mucosa and should therefore be avoided. Mist tents may be used to protect exposed tissue.

Use of plastic wrap to protect delicate bladder mu Use of plastic wrap to protect delicate bladder mucosa in newborn with bladder exstrophy. Courtesy of Richard Rink, MD.

Antibiotic therapy is usually started after delivery and continued through the early postoperative period. Daily administration of prophylactic antibiotics may be continued in the weeks after bladder closure; however, surgeons' philosophies on this matter vary widely. Infections may be related to poor emptying and are to be prevented in light of the high incidence of vesicoureteral reflux (VUR).

Latex precautions should be instituted; there is a high incidence of latex sensitization in patients with exstrophy-epispadias complex (EEC).

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Surgical Care

Reconstruction of EEC remains one of the greatest challenges facing the pediatric urologist. Many modifications in surgical procedures have improved outcomes. Longitudinal prospective assessment of the two main current surgical approaches (staged procedure and total reconstruction) is critical for optimizing functional and cosmetic outcomes.

Complete primary reconstruction is now more than 20 years old and may be accomplished through various methods; however, each approach is in a constant state of minor modification. Data on this approach continue to mature and are updated almost yearly. [36, 37, 38, 39, 40, 41] Analysis of each experience focuses on daytime continence with volitional voiding, need for further surgical procedures, and complication rates. In experienced hands, the safety and efficacy of the different approaches are comparable.

Goals of therapy include provision of urinary continence with preservation of renal function and reconstruction of functional and cosmetically acceptable genitalia. Creation of a neoumbilicus is also important to many of these patients.

Surgical techniques used in the treatment of EEC include the following:

  • Modern staged repair of exstrophy (MSRE) [42]
  • Kelly repair (radical soft-tissue mobilization [RSTM])
  • Complete primary repair for classic bladder exstrophy (CPRE)
  • Urinary diversion for classic bladder exstrophy
  • Closure for cloacal exstrophy
  • Gender reassignment

Staged functional closure for classic bladder exstrophy

MSRE, the traditional surgical approach, comprises a series of staged operations. Initial bladder closure is completed within 72 hours of birth for classic bladder exstrophy. If this is delayed, pelvic osteotomies are required to facilitate successful closure of the abdominal wall and to allow placement of the bladder and the posterior urethra deep into the pelvis within a closed and supportive pelvic ring. If at any point the pelvis is deemed to be immobile, even within 72 hours of life, pelvic osteotomy should be performed. Additionally, osteotomy is mandatory in all cloacal exstrophies.

Epispadias repair with urethroplasty is performed at age 6-12 months. This allows enough increase in bladder outlet resistance to improve the bladder capacity.

Bladder-neck reconstruction (typically a modified Young-Dees-Leadbetter repair) is performed at age 8-10 years, or after the child has participated in an intensive voiding improvement program to prepare for life after surgery and has demonstrated a willingness to participate in his or her care. This allows continence and correction of VUR. Multiple modifications have been proposed. The procedure is delayed until bladder capacity is adequate; better results are reported with a capacity greater than 100 mL.

Chua et al retrospectively studied a modification of staged exstrophy repair aimed at incorporating the advantages of CPRE by avoiding concurrent epispadias repair and adding bilateral ureteral reimplantation and bladder-neck tailoring (staged repair of bladder exstrophy with bilateral ureteral reimplantation [SRBE-BUR]) at the initial repair. [43] They found SRBE-BUR to be a safe alternative for exstrophy-epispadias repair, preventing penile tissue loss and yielding long-term outcomes comparable to those of CPRE.

Kelly repair

RSTM, also referred to as the Kelly repair, has been suggested as an alternative approach to staged reconstruction of bladder exstrophy. [44, 45] RSTM has been performed not only as the second part of a two-step strategy (after bladder closure) but also as part of a combined procedure that includes delayed bladder closure and RSTM in a single stage without pelvic osteotomy. [46]

Complete primary repair for classic bladder exstrophy

Compared with MSRE, CPRE is a newer approach to exstrophy closure. Primary bladder closure, urethroplasty, and genital reconstruction are performed in a single stage in newborns. This procedure involves complete penile disassembly in males and mobilization of the urogenital complex in females. Hypospadias is a common outcome in males and requires subsequent reconstruction. 

The goal is early bladder cycling. A small subset of patients have achieved continence without bladder-neck reconstruction.

In a study of 34 boys treated with a modified penile disassembly technique (15 with bladder exstrophy who underwent CPRE, 11 with penopupic epispadias after previous closure of bladder exstrophy, and eight with isolated complete epispadias), Anwar et al found the modified technique to yield acceptable cosmetic results. [47] Preservation of the distal urethral plate along with both hemiglandes avoided shortening and prevented the occurrence of hypospadias.

Urinary diversion for classic bladder exstrophy

Urinary diversion was the original surgical treatment of choice. Diversion may be performed in a patient with an extremely small bladder plate not suitable for functional closure. [48] In Europe, early diversion has been widely used, with success for most exstrophy patients. Long-term follow-up is required in these patients; metabolic disturbances are common and increased rates of malignancy have been reported.

Closure for cloacal exstrophy

Treatment of myelodysplasia and gastrointestinal (GI) anomalies has priority over management of urinary and genital anomalies.

Prompt omphalocele closure in the neonatal period is recommended to safeguard against untimely rupture; however, this is only performed after neurosurgical concerns are addressed. At the time of initial omphalocele closure, one of the following three pathways is typically employed for intestinal diversion and hindgut management:

  • Ileostomy creation with hindgut resection
  • Ileostomy placement with hindgut mucous fistula
  • Cecal tubularization with end-colostomy creation

Historically, initial intestinal diversion relied on ileostomy with hindgut resection; however, this gave rise to several unintended consequences. First, the procedure induced short-gut syndrome universally and made later reconstruction of the GI tract less likely. Second, high-output ileostomy predisposed children to increased hospitalization with recurrent dehydration and electrolyte derangements. [28] The induced acidosis secondary to high ileostomy output adversely impacts calcium homeostasis and directly modulates the growth hormone (GH)–insulinlike growth factor (IGF)-1 axis, blunting the release of GH. In the long term, this is associated with growth-related morbidity in patients with cloacal exstrophy. [49]

Consequently, there has been a paradigm shift in initial intestinal diversion and hindgut management. At present, the preferred method of bowel management is cecal tubularization with end-colostomy creation to eliminate short-gut syndrome and facilitate intestinal pull-through procedures. [32] Typically, GI reconstruction is performed 1-2 years after initial fecal diversion; however, if this reconstruction is combined with bladder closure, approximation of the pubis is paramount for successful bladder, abdominal-wall, and bowel reconstruction. Typically, the success of these reconstructions depends on pelvic reconstruction with osteotomies.

Closure can be either staged or performed in a single stage, depending on the overall condition of the child, the severity of the abdominal-wall defect, and the width of the pubic diastasis. If a large omphalocele is present, successful closure of the abdomen and the bladder in a single stage may be difficult to accomplish.

The first stage involves separation of the GI and genitourinary (GU) tracts, closure of the colon, creation of a colostomy, and closure of the omphalocele. The bladder plates are brought together in the midline.

Because virtually all of these patients have some element of short-gut syndrome, the hindgut should be incorporated into the GI tract to maximize absorptive surface area. Ileostomy should be avoided, because of the high incidence of recurrent hospitalizations for dehydration and severe electrolyte abnormalities. The choice between rectal pull-through and permanent colostomy is based on the surgeon's preference and the projected potential for social fecal continence. [50]

Subsequent bladder closure is carried out as in surgical management of classic bladder exstrophy. The principles of complete primary repair have been applied at this point as well. Consideration may be given to continent diversion as the second stage, on the basis of poor potential for volitional voiding and continence.

Because of the more severe pubic diastasis, pelvic osteotomies are required. Staged pelvic osteotomy (SPO) with gradual closure of the pelvis may be needed in severe cases. [51] In a study comparing SPO before bladder closure with combined pelvic osteotomy (CPO) at the time of closure in cloacal exstrophy patients, Inouye et al found that SPO reduced preoperative diastasis more than CPO did, without appearing to incur increased rates of complication, closure failure, or incontinence. [52]

In the past, surgical management of the pelvis in cloacal exstrophy relied on a single surgical procedure. Currently, however, the usual practice at the authors' hospital has evolved to multiple staged repairs with mandatory osteotomy. With this approach, any extreme diastasis is gradually reduced before definitive soft-tissue closure is attempted.

Approximately 2-3 weeks before abdominal-wall closure, it is standard procedure for cloacal exstrophy patients to have combined bilateral anterior innominate and vertical iliac osteotomies, followed by placement of an external fixator device. At the time of bladder closure, the pubis is further brought into apposition with screw-and-rod or screw-and-plate devices. A review of historical trends of osteotomy by Haney et al revealed an increasing prevalence of CPO since 1990, with a concomitant increase in success rates. [53]

Gender reassignment

Gender assignment is an important part of the process and requires special consideration. It may require consultation from pediatric endocrinology, child psychology, or pediatric psychiatry. All gender assignment decisions should only be made after karyotyping, thorough discussion, and appropriate parental counseling.

Given the typical wide separation of the penile bodies and demure penile bodies in boys with cloacal exstrophy, initial reports advocated universal gender reassignment of 46,XY boys to functional females. [54] This view drove early principles in management, including bilateral orchiectomy along with phallic reconstruction as a functional clitoris and vaginoplasty, either early or delayed.

The long-term effects of this practice are a topic of intense debate. Patients living longer with this condition offer a glimpse into the psychosocial implications of this practice and the potential role of genotype and intrauterine hormonal milieu. In one cohort of 29 males with cloacal exstrophy who underwent female gender reassignment, all 29 demonstrated a predominant male shift in psychosexual development despite not experiencing any pubertal hormonal surges. [55] Other series, however, have demonstrated no differences in behavior or psychosocial issues, though there was one reported case of masculinization in a 46,XY gender-converted patient that was due to an ectopic testis. [56, 57]

Cloacal exstrophy is now included as a subset of differences (disorders) of sex development. [58] Multidisciplinary evaluation and both early and long-term counseling should be offered. Current attitudes favor assigning gender that is concordant with karyotype, if possible. At the authors' institution, no gender reassignment procedures have been performed for more than 25 years. 

Intraoperative concerns

Multiple or lengthy surgical procedures with exposure to latex antigens increase the risk of latex sensitization or allergy. [40] Approximately 30% of patients with bladder exstrophy have demonstrated symptoms of latex allergy, and 70% reveal sensitization (elevation of specific immunoglobulin E [IgE] antibody) to latex antigens. For practical purposes, all patients with EEC should be considered to be latex-sensitive.

Full latex precautions are recommended in the operating room, beginning with preparation for the first operative procedure. Potential latex-containing materials in the operating room include gloves, catheters, drains, masks, anesthesia materials, bandages, and thromboembolic stockings. Polyvinyl chloride and silicone are acceptable alternatives. Latex allergy should be considered seriously in the event of intraoperative anaphylaxis. The offending agent should be removed and the surgical procedure aborted if necessary.

Treatment includes cardiopulmonary resuscitation with fluids, epinephrine, steroids, and histamine blockade. In those with a known latex allergy, premedication with steroids and histamine H1 and H2 blockers should be considered.

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Postoperative Care

Postoperatively, nutrition and immobilization are key to ensure proper healing. Nutritional support is mandatory for patients with cloacal exstrophy. Patients with classic bladder exstrophy may also have early difficulties feeding because of the body position in traction.

One large series out of Johns Hopkins assessed predictors of successful primary closure in exstrophy and reported that a staged closure, along with the use of pelvic osteotomy, predicted successful closure [59] ; after bladder closure, postoperative immobilization was crucial to success.

Several techniques for immobilization have been described, including mummy wraps, spica casts, Bryant traction, and Buck traction. Spica casts and mummy wraps do not provide adequate immobilization and therefore may lead to increased failure of pelvic reconstruction (success rates of 49% and 57%, respectively, in primary closures); however, the combination of Buck traction and external fixation offers a 95% chance of successful primary closure (97% in repeated closures). Bryant traction is now less used and of mainly historical interest; it has been employed in newborn closures that do not require osteotomy.

Another key aspect of postoperative care is ensuring that the bladder is completely dry to ensure healing. Typically, the bladder and kidneys are drained fully with multiple stents catheters during the first few weeks after closure.

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Complications

In the treatment of complex congenital anomalies, the distinction between technical complications and problems inherent to the anomaly is not always obvious.

Failure of closure may occur. If the bladder plate is adequate, reclosure with pelvic osteotomies is recommended. In this instance, bladder closure and epispadias repair are performed in one stage. Urinary diversion is an alternative therapy.

A vesicocutaneous fistula or urethrocutaneous fistula may form after primary closure or urethral reconstruction. If spontaneous closure does not occur, surgical repair is required.

Loss of the hemiglans (see the image below) or corporal body has been reported as a result of CPRE and is a catastrophic complication of this technique. [60, 61]

Young male with left hemiglans loss after complete Young male with left hemiglans loss after complete primary repair for classic bladder exstrophy (CPRE). Courtesy of John P Gearhart, MD.

Minor orthopedic complications (eg, transient nerve and muscle palsies, delayed ileal union, and superifical pin-site infection or inflammation) may occur after osteotomy or immobilization; they are typically self-limiting.

Upper urinary tract deterioration (documented by increased dilation of the ureters and renal collecting system) is a potential complication. Causes include excessive outlet resistance and high pressure in a small-capacity reservoir and persistent VUR.

Abnormal bladder function may result in poor emptying. Clinical problems related to poor emptying include recurrent febrile infections, epididymitis, bladder stones, acute urinary retention, and rupture of the native bladder.

Bladder prolapse is a potential complication. The posterior bladder wall may prolapse through the patulous bladder neck after primary closure (see the image below). Recurrent prolapse, congestion, ischemia of bladder mucosa, or failure of ureteral drainage warrants early surgical correction.

Subtotal prolapse of bladder wall through patulous Subtotal prolapse of bladder wall through patulous bladder neck after bladder closure in female with cloacal exstrophy. Bladder mucosa appears healthy, and urine is draining freely. Courtesy of Richard Rink, MD.

Malignancy is a rare late complication of bladder exstrophy and is more common in untreated patients whose bladders are left exstrophic for many years. Adenocarcinoma is the most common of these malignancies, from the precursor cystitis glandularis, which is caused by chronic irritation and inflammation of exposed mucosa of the exstrophic bladder. Squamous cell carcinoma and rhabdomyosarcoma have also been reported.

Adenocarcinoma may develop adjacent to the ureterointestinal anastomosis in patients with urinary diversions that mix the urinary and fecal streams. This malignancy was reported in more than 10% of patients in one series. [62] Patients younger than 25 years with ureterosigmoidostomy have a 7000-fold greater risk of adenocarcinoma of the colon than the general population (mean latency, 10 years).

Complications of short-gut syndrome are as follows:

  • Paucity of hindgut and, in many cases, limited small intestine can result in electrolyte abnormalities in patients with cloacal exstrophy
  • Dehydration is particularly a concern during an acute GI illness with diarrhea
  • Nutritional supplementation may be required

Adjuncts for continence, including augmentation cystoplasty and catheterizable urinary diversion, present unique complications, including mucus overproduction, bladder calculi, chronic bacterial colonization, and epithelial polyps. Another long-term issue that may arise from augmentation cystoplasty is chronic metabolic acidosis. [16, 63] With time, the stoma created for urinary diversion may stenose, prolapse, necrose, or leak, requiring revision.

Regardless of the specific surgical approach followed, successful primary bladder closure is the primary goal. A failed closure is devastating for the patient and family, and the consequences are substantial. Patients who experience a failed primary closure are subject to more operations and hence increased exposure to general anesthesia. Although a failed bladder closure in classic bladder exstrophy has a negative impact on ultimate urinary continence, a failed closure in cloacal exstrophy has a less pronounced impact on continence specifically, in that most of these patients will require additional continence procedures regardless of the primary outcome. [64, 65]

The ramifications of failed closure extend beyond the additional operations required and include a substantial degree of financial morbidity. Goldstein et al performed a cost analysis in cloacal exstrophy patients and found that with a successful primary repair, it costs approximately $196,000 to reach continence, whereas after a failed primary bladder closure, the cost of achieving continence rises to $407,000. [66]

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Diet

Some young patients with cloacal exstrophy are seriously affected by short-gut syndrome and may depend on long-term supplemental parenteral nutrition for growth and development.

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Activity

After surgery, the patient must be kept immobile. Modified Buck traction with external fixation is now the preferred method at the authors' institution and has emerged as the best modality for ensuring proper healing of a pelvic reconstruction. Alternatively, spica casts, lower-extremity mummy wraps, and Bryant traction may be used, depending on the performance of osteotomies and on institutional protocols, but lower success rates are to be expected.

In childhood, the patient may have a waddling gait because of abnormal pelvic rotation, but activity is unrestricted, and no long-term orthopedic sequelae occur.

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Consultations

The following consultations may be appropriate:

  • Neonatologist for the special needs of a premature newborn and the care of a child with multiple anomalies
  • Pediatric gastroenterologist, if needed, for the patient with cloacal exstrophy to manage the short-gut physiology with parenteral and modified external feeding
  • Pediatric urologist or surgeon with special interest and expertise in the management of EEC
  • Neurosurgeon for patients with cloacal exstrophy with myelodysplasia
  • Orthopedic surgeon if lower-extremity anomalies are present and if pelvic osteotomies are required for bladder closure
  • Child psychiatrist if gender conversion is considered; counseling should be offered to children struggling with incontinence and with concerns regarding how their bodies look or function differently from peers' bodies; counseling is recommended before major reconstruction for continence; teen and young adult males appear to be at increased risk for suicidal behaviors and other psychopathology when compared with unaffected peers [67]
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Long-Term Monitoring

Remaining urinary drainage catheters are removed as part of outpatient follow-up care. Prophylactic antibiotics are continued.

Lifelong follow-up care with a urologist is important to monitor for urinary tract infections, deterioration in bladder function, or damage to the kidneys and to direct appropriate surgical or medical therapy. Patients with cloacal exstrophy require long-term follow-up care with a neurosurgeon, an orthopedic surgeon, and a general surgeon.

Counseling for school-age children may be offered preemptively or as concerns arise. Because of the potential long-term implications of exstrophy, patient education is critical. Exstrophy support groups are established at several major medical centers.

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