Exstrophy and Epispadias 

Updated: Feb 21, 2019
Author: Elizabeth B Yerkes, MD; Chief Editor: Marc Cendron, MD 

Overview

Background

The exstrophy-epispadias complex comprises a spectrum of congenital abnormalities that includes classic bladder exstrophy, epispadias, cloacal exstrophy, and several variants. Each of these anomalies is thought to result from the same embryologic defect.

Separation of the primitive cloaca into the urogenital sinus and hindgut occurs during the first trimester at approximately the same time as maturation of the anterior abdominal wall. Failure of mesenchyme to migrate between the ectodermal and endodermal layers of the lower abdominal wall leads to instability of the cloacal membrane.

Premature rupture of the membrane before its caudal translocation leads to this complex of infraumbilical anomalies. Rupture of the cloacal membrane after complete separation of the genitourinary and gastrointestinal (GI) tracts results in classic bladder exstrophy. However, rupture prior to descent of the urorectal septum allows externalization of the lower urinary tract and the distal GI tract (cloacal exstrophy).

Cloacal exstrophy must be distinguished from the condition of persistent cloaca or cloacal malformation. The latter terms refer to the most extreme form of anorectal malformation in female infants. This complex anomaly involves incomplete separation of the urinary tract, genital tract, and hindgut. No abdominal wall defect is present in persistent cloaca.

Epispadias is a variant that displays normal bladder formation but incomplete urethral tubularization from the bladder neck down.[1]

Pathophysiology

The true cause of bladder exstrophy has not been elucidated. In classic bladder exstrophy, the lower urinary tract, genitalia, and musculoskeletal system are affected. Cloacal exstrophy is a much more severe abnormality, with significant involvement of the GI tract and the central nervous system (CNS). In epispadias, only the urethra and the external genitalia are involved.

Etiology

No definitive risk factors or causative agents are known. On the basis of the known embryologic principles of cloacal development, any inciting event would have to occur early in pregnancy.

Offspring of patients with exstrophy-epispadias complex have a 1 in 70 risk (500 times that of the general population) of being affected. Nevertheless, familial occurrence is uncommon in large series.[2]  The heritability of cloacal exstrophy has not been established, because no offspring have been reported.

At present, 22q11.2 duplication is the genetic variant most commonly associated with bladder exstrophy-epispadias complex.[3]

Exstrophy has been reported in twins. Concordance rates show strong evidence of genetic effects,[4] but less than 100% concordance among identical twins suggests some role for environmental effect on development of exstrophy-epispadias.

A higher incidence of bladder exstrophy is observed in infants of younger mothers and in those with relatively high parity.

Maternal tobacco exposure is associated with more severe defects (cloacal vs classic exstrophy).

Growing evidence suggests an increased incidence of cloacal exstrophy and bladder exstrophy-epispadias with in-vitro fertilization (IVF) pregnancies.[5]

Epidemiology

In the United States, the prevalence of classic bladder exstrophy is 3.3 per 100,000 births; male epispadias occurs in 1 in 117,000 births, female epispadias in 1 in 484,000 births, and cloacal exstrophy in 1 in 200,000-400,000 births.[6] Internationally, the prevalence is the same as that in the United States.

Because this is a congenital abnormality, newborns are affected. For classic bladder exstrophy, the male-to-female ratio is 2.3:1 and as high as 6:1 in some series. These conditions seem to be more common in whites than in other races.

Prognosis

Mortality with classic bladder exstrophy or epispadias is rare. Historically, cloacal exstrophy was associated with significant mortality. Reconstruction was not attempted until the 1970s. Advances in the care of critically ill neonates and recognition of the importance of early parenteral nutritional support have allowed successful reconstruction and survival of children with cloacal exstrophy.

Survival rates after surgical treatment are excellent. With respect to bladder function or continence, reports vary according to the type of reconstruction performed.[7, 8, 9] Objective and subjective evidence indicates that many exstrophic bladders do not function normally after reconstruction and may deteriorate over time.

Continence rates of 75-90% have been reported after staged reconstruction in classic exstrophy, but more than one continence procedure may be required (eg, bladder neck reconstruction, bladder augmentation, bladder neck sling, or artificial urinary sphincter). Many of these patients require clean intermittent catheterization (CIC) through the urethra or a continent stoma because they are unable to void spontaneously to completion. Less encouraging results also are reported.

Continence results after staged reconstruction are poor (< 25%) in cloacal exstrophy because of abnormal bladder innervation in many patients. Experience with rectal reservoirs (ureterosigmoidostomy and variants) for exstrophy continence demonstrates rates higher than 95%, but they present long-term malignancy risks.[10] Continent reconstruction with intestinal bladder augmentation and CIC has a success rate greater than 90%.

With regard to sexuality, males are generally potent, but some report inadequate phallus or residual curvature. Females report normal sexual function.[11]

With respect to fertility and childbearing, retrograde ejaculation or iatrogenic obstruction of the ejaculatory ducts or vas deferens after surgical reconstruction may result in abnormal semen analysis. Antegrade ejaculation is preserved after single-stage repair, but abnormal semen parameters are common. However, fertilization, with viable pregnancy, has been achieved by male patients with exstrophy.[12]

Females have had successful pregnancies.[13] Cesarean delivery is recommended to avoid injury to continence mechanism. Postpartum uterine prolapse is common because of aggravation of preexisting abnormal pelvic support.

With regard to psychosocial concerns, education, employment, and social relationships generally are not affected substantially in adults with a history of bladder exstrophy and epispadias.[14, 15] Age-appropriate adaptive behaviors may be delayed in children with chronic medical conditions.[16] One study revealed below-average daily living skills and socialization but above-average self-esteem. Children may need support in disclosing their condition to new peers.

Multiple anomalies associated with cloacal exstrophy can have a significant impact on daily life. Patients are affected by permanent colostomy, the need for CIC, and impaired ambulation.

Patient Education

Exstrophy-epispadias syndrome is a complex anomaly that often requires several surgical procedures and requires lifelong medical follow-up care. Patients and families need to be counseled about the complexity of the anomaly, the need for multiple procedures, and long-term expectations for continence, sexual function, and fertility.

The risks, benefits, and alternatives of urinary tract reconstruction must be explained carefully to the family, and they must accept responsibility for daily care of the patient (eg, CIC after bladder augmentation) before surgery can proceed.

 

Presentation

History

Antenatal ultrasonography (US) findings suggestive of exstrophy-epispadias complex include the following:

  • Repeated failure to visualize the bladder on US
  • Lower-abdominal-wall mass
  • Low-set umbilical cord
  • Abnormal genitalia
  • Increased pelvic diameter

Additional antenatal US findings suggestive of cloacal exstrophy include the following:

  • Limb abnormalities
  • Myelomeningocele
  • Trunk sign from prolapsed intestine

Increased use of fetal magnetic resonance imaging (MRI) may further improve the accuracy of antenatal diagnosis, but this test is not necessary if suspicion is high on the basis of US findings.

Classic bladder exstrophy and cloacal exstrophy are obvious to all in the delivery room. Variants of the exstrophy-epispadias complex exist, including skin-covered bladder exstrophy, duplicate bladders, superior vesical fistula, and epispadias with major bladder prolapse.[17]  Most exstrophy variants and epispadias are also identifiable at birth. Unrecognized female epispadias may present as persistent childhood incontinence. Unrecognized split-symphysis variants of exstrophy may be identified in childhood only because of persistent incontinence or a waddling gait.

Physical Examination

General findings

Patients with classic bladder exstrophy or epispadias typically appear as term infants. Patients with cloacal exstrophy, however, are often preterm. They may have respiratory embarrassment requiring mechanical ventilation.

Abdominal findings

In classic bladder exstrophy (see the images below), the bladder is open on the lower abdomen, with mucosa fully exposed through a triangular fascial defect. The abdominal wall appears long because of a low-set umbilicus on the upper edge of the bladder plate. The distance between the umbilicus and anus is foreshortened. The recti diverge distally, attaching to the widely separated pubic bones. Indirect inguinal hernias are frequent (>80% of males, >10% of females) because of wide inguinal rings and the lack of an oblique inguinal canal.

Open bladder plate and urethra with bifid clitoris Open bladder plate and urethra with bifid clitoris in female patient with classic bladder exstrophy. Note low-set umbilicus and anteriorly displaced anus. Courtesy of Richard Rink, MD.
Male with classic bladder exstrophy. Note low-set Male with classic bladder exstrophy. Note low-set umbilicus and short, broad, upturned phallus. Distance between phallus and scrotum is abnormal. Courtesy of Richard Rink, MD.

In epispadias, the pubic symphysis is generally widened. The rectus muscles are divergent distally.

Nearly all patients with cloacal exstrophy have an associated omphalocele (see the image below). The bladder is open and separated into two halves, flanking the exposed interior of the cecum. Openings to the remainder of the hindgut and to one or two appendices are evident within the cecal plate. Terminal ileum may prolapse as a "trunk" of bowel onto the cecal plate.

46,XY newborn with cloacal exstrophy. A very large 46,XY newborn with cloacal exstrophy. A very large omphalocele is present, and the hemibladders flank the exstrophic cecal plate. The phallus is small and bifid, with the hemiglans and hemiscrotum located just distal to the bladder. Courtesy of Martin Kaefer, MD.
Lipomeningocele in the same newborn shown in Image Lipomeningocele in the same newborn shown in Image 6, a 46,XY newborn with cloacal exstrophy. Courtesy of Martin Kaefer, MD.

In exstrophy variants, the pubic symphysis is widely separated, and the recti diverge distally. The umbilicus is low or elongated. A small superior bladder opening or a patch of isolated bladder mucosa may be present. The intact bladder may be externally covered by only a thin membrane. Isolated ectopic bowel segments have been reported.

Patent urachus is a differential diagnosis for the superior vesical fissure variant of exstrophy-epispadias (see the image below). However, patent urachus lacks the typical musculoskeletal abnormalities of exstrophy and is open at the umbilicus. Superior vesical fissure is infraumbilical.

Superior vesical fissure variant of exstrophy. Gen Superior vesical fissure variant of exstrophy. Genitalia are normal. Patent urachus is considered in the differential diagnosis, although the opening is well below the umbilicus. Rectus abdominis and pubic abnormalities are found in the exstrophic variant but not with patent urachus. Courtesy of Richard Rink, MD.

Genital findings

(In describing the anatomy of the penis, the terms dorsal and ventral refer to a normal phallus in the erect state. The dorsal surface is in continuity with the abdominal wall, and the ventral surface is in continuity with the scrotum.)

In classic bladder exstrophy in males, the phallus is short and broad with upward curvature (dorsal chordee). The glans lies open and flat like a spade, and the dorsal component of the foreskin is absent. The urethral plate extends the length of the phallus without a roof. The bladder plate and urethral plate are in continuity, with the verumontanum and ejaculatory ducts visible within the prostatic urethral plate. The anus is anteriorly displaced with a normal sphincter mechanism.

In classic bladder exstrophy in females, the clitoris is uniformly bifid with divergent labia superiorly. The open urethral plate is in continuity with the bladder plate. The vagina is anteriorly displaced. The anus is anteriorly displaced with a normal sphincter mechanism.

In male epispadias (see the image below), the phallus is short and broad with upward curvature (dorsal chordee). The glans lies open and flat like a spade, and the dorsal component of the foreskin is absent. The urethral meatus is located on the dorsal penile shaft, anywhere between the penopubic angle and the proximal margin of the glans.

Penopubic epispadias in male patient. Typical spad Penopubic epispadias in male patient. Typical spadelike configuration of glans penis with incomplete foreskin, dorsal urethral plate, and open bladder neck. Courtesy of Richard Rink, MD.

In female epispadias (see the images below), the clitoris is most often bifid with divergent labia superiorly. The dorsal aspect of the urethra is open distally. The urethra and bladder neck are patulous and may allow visualization of bladder. Bladder mucosa may prolapse through the bladder neck.

External view in female patient with epispadias. L External view in female patient with epispadias. Labia are separated anteriorly. Courtesy of Richard Rink, MD.
Female patient with epispadias with labia retracte Female patient with epispadias with labia retracted. The clitoris is bifid, and the urethra is open dorsally. Courtesy of Richard Rink, MD.

In cloacal exstrophy, the penis is generally quite small and bifid, with a hemiglans located just caudal to each hemibladder. Infrequently, the phallus may be intact in the midline. In females, the clitoris is bifid, and two vaginas are present. The anus is absent.

In exstrophy variants, the genitalia generally are intact (see the image below), though epispadias can occur.

Female with covered exstrophy. The umbilicus is ve Female with covered exstrophy. The umbilicus is very low, the pubic bones are widely separated, and the rectus muscles are divergent. The bladder is intact, but the patient has undergone bladder neck reconstruction to achieve urinary continence. The external genitalia are normal. Courtesy of Elizabeth Yerkes, MD.

Musculoskeletal findings

In classic bladder exstrophy, the pubic symphysis is widely separated. Divergent rectus muscles remain attached to the pubis. External rotation of the innominate bones results in a waddling gait in ambulatory patients but does not appear to result in orthopedic problems later in life.

In cloacal exstrophy, the examination is the same as for bladder exstrophy. As many as 65% of patients have a clubfoot or major deformity of a lower extremity. As many as 80% of patients have vertebral anomalies.

In split-symphysis variants of exstrophy, the pubic symphysis is widely separated (see the image below), and the rectus muscles are divergent.

Typical appearance of pelvis in patient with exstr Typical appearance of pelvis in patient with exstrophy-epispadias complex with wide separation of pubic symphysis.

Neurologic findings

In cloacal exstrophy, as many as 95% of patients have myelodysplasia, which may include myelomeningocele, lipomeningocele, meningocele, or other forms of occult dysraphism. These patients are at risk for neurologic deterioration, and they should be observed closely. Early neurosurgical consultation is appropriate if a radiographic abnormality of the spinal cord or canal is observed.

 

DDx

Diagnostic Considerations

Other problems to be considered include the following:

  • Patent urachus
  • Persistent cloaca
 

Workup

Laboratory Studies

Before complex reconstruction of the urinary tract, it is important to obtain information about the patient's baseline renal function. In patients with cloacal exstrophy, losses from the terminal ileum short-gut physiology can result in significant electrolyte abnormalities.

Imaging Studies

Baseline examination of the kidneys with ultrasonography (US) is recommended for all patients with exstrophy because increased bladder pressure after bladder closure can lead to hydronephrosis and upper urinary tract deterioration. Congenital upper urinary tract anomalies are uncommon with classic exstrophy and epispadias but are present in approximately one third of patients with cloacal exstrophy (eg, ectopic pelvic kidney, renal agenesis, or hydronephrosis).

Spinal US or radiography may be helpful. Myelodysplasia should be excluded in newborns with cloacal exstrophy. This can be accomplished by means of US early in life. In cloacal exstrophy, magnetic resonance imaging (MRI) is recommended to help identify occult abnormalities that may predispose to symptomatic spinal cord tethering.

Bilateral vesicoureteral reflux (VUR) is present in nearly all patients with classic bladder exstrophy. Voiding cystourethrography (VCUG) is performed in early childhood to assess bladder capacity in preparation for reconstructive continence surgery. Evaluation of the bladder neck and proximal urethra is recommended in patients with epispadias in order to plan surgical management.

Histologic Findings

Histologic studies are not routinely performed. However, clinical investigations have revealed an increased ratio of extracellular matrix to muscle within the bladder wall. In particular, the amount of type III collagen is increased. This ratio seems to approach a more normal range (ie, relative increase in muscle) after successful bladder closure. Exstrophied bladders also have fewer myelinated nerve fibers than unaffected bladders do.

 

Treatment

Medical Care

For neonates with exstrophy and epispadias, initiate general supportive care appropriate for the overall condition and associated anomalies. For patients with cloacal exstrophy, institute parenteral nutrition early.

Place clean plastic wrap over the bladder plate (see the image below). Avoid moistened or impregnated gauze, which is irritating to the delicate bladder mucosa. Mist tents may be used to protect exposed tissue.

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

Start antibiotic therapy after delivery, and continue through the early postoperative period. Daily administration of prophylactic antibiotics may be continued in the weeks after bladder closure. Surgeons' philosophies on this matter vary. Infections may be related to poor emptying and are to be prevented in light of the high incidence of vesicoureteral reflux (VUR).

Institute latex precautions; there is a high incidence of latex sensitization in patients with exstrophy-epispadias complex.

Surgical Care

Reconstruction of exstrophy-epispadias complex remains one of the greatest challenges facing the pediatric urologist. Many modifications in surgical procedures have improved outcomes, but the optimal approach remains uncertain. 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; however, each approach is in a constant state of minor modification. Data on this approach continue to mature and are updated almost yearly.[18, 19, 20, 21, 22, 23] 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 exstrophy-epispadias complex include the following:

  • Staged functional closure for classic bladder exstrophy (ie, modern staged repair of exstrophy [MSRE]) [24]
  • 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, which represents the traditional surgical approach, comprises a series of operations. Initial bladder closure is completed within 72 hours of birth. If this is delayed, pelvic osteotomies are required to facilitate successful closure of the abdominal wall and to allow the bladder to lie within a closed and supportive pelvic ring.

Epispadias repair with urethroplasty is performed at age 12-18 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 4 years. 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 85 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.[25]  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. 

The radical soft-tissue mobilization (RSTM) procedure, also referred to as the Kelly repair, has been suggested as an alternative approach to staged reconstruction of bladder exstrophy.[26, 27]  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.[28]

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 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 excellent cosmetic results.[29] Preservation of the distal urethral plate along with both hemiglans avoided shortening and prevented 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.[30] In Europe, early diversion has been widely used, with success for most exstrophy patients.

Closure for cloacal exstrophy

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

Closure can be either staged or performed in a single stage, depending on the overall condition of the child and the severity of the abdominal wall defect. If a large omphalocele is present, successful closure of the abdomen and the bladder in one 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 decision between rectal pull-through and permanent colostomy is based on the surgeon's preference and the projected potential for social fecal continence.[31]

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 more severe pubic diastasis, pelvic osteotomies are required. Staged pelvic osteotomy (SPO) with gradual closure of the pelvis may be needed in severe cases.[32] 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.[33]

Gender reassignment

Historically, all males with cloacal exstrophy underwent early gender conversion because of inadequate male genitalia. Testicular histology is normal despite frequent cryptorchidism.

Evidence suggesting that testosterone in utero has a significant impact on the developing brain has led to a change in surgical philosophy, as has anecdotal evidence suggesting that raising a 46,XY cloacal exstrophy patient as female can result in significant gender dysphoria. Cloacal exstrophy is now included as a subset of disorders of sex development.[34] Multidisciplinary evaluation and both early and long-term counseling should be offered.

Intraoperative concerns

Multiple or lengthy surgical procedures with exposure to latex antigens increase the risk of latex sensitization or allergy.[22] 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 exstrophy-epispadias complex 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.

Postoperative Care

Postoperatively, patients with exstrophy remain in the hospital in modified Bryant traction (legs adducted and pelvis slightly elevated) for 3 weeks after bladder closure. Alternative techniques of immobilization may be used, based on osteotomies or institutional protocol.

Bladder and kidneys are drained fully with multiple catheters during the first few weeks after closure.

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.

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 the 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 or corporal body has been reported as a result of complete primary repair.[35, 36]

Minor orthopedic complications may occur after osteotomy or immobilization.

Upper urinary tract deterioration 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. 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. The 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.[37]  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

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.

Activity

The patient is kept in modified Bryant traction for 3 weeks after exstrophy closure. Alternatively, spica casts, lower-extremity wraps, and external pelvic fixators may be used, depending on the performance of osteotomies and on institutional protocols.

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.

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 exstrophy-epispadias complex
  • 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 [38]

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, orthopedic surgeon, and 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.

 

Medication

Medication Summary

Antibiotics are given to prevent urinary tract infections in patients with exstrophy and epispadias.

Broad-spectrum antibiotics

Class Summary

These agents are used for prevention of perioperative tissue infection due to preoperative colonization of urinary tract or multiple indwelling catheters.

Ampicillin (Marcillin, Omnipen, Polycillin)

Bactericidal activity against susceptible organisms. Started at birth in classic bladder exstrophy or cloacal exstrophy and continued through early postoperative period.

Gentamicin (Garamycin)

Aminoglycoside antibiotic for gram-negative coverage. Started at birth in classic bladder exstrophy or cloacal exstrophy and continued through early postoperative period.

Prophylactic antibiotics

Class Summary

These agents are used for prevention of urinary tract infection in light of vesicoureteral reflux and possible inefficient bladder emptying.

Amoxicillin (Trimox, Amoxil, Biomox)

First-line choice for prophylaxis in newborns. Interferes with synthesis of cell wall mucopeptides during active multiplication, resulting in bactericidal activity against susceptible bacteria. Used as prophylaxis in certain PO, GI, or genitourinary procedures.

Trimethoprim-sulfamethoxazole (Bactrim, Septra, Cotrim)

Inhibits bacterial growth by inhibiting synthesis of dihydrofolic acid. Switch from amoxicillin to TMP-SMZ after 2 mo; can dispense larger supply, making refills more convenient; susp contains 20 mg TMP and 100 mg SMZ per 5 mL; prophylactic dose is one half therapeutic dose.