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. Any derangements in electrolyte balance or renal function should be addressed, and corrected if possible, prior to surgery.

Imaging Studies

A complete imaging series that includes plain films, ultrasonography (US), and, if needed, magnetic resonance imaging (MRI) helps determine the severity of associated defects and facilitates early involvement of consulting services (eg, pediatric orthopedic surgery, pediatric neurosurgery, and pediatric general surgery).

Baseline examination of the kidneys with 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, 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 to facilitate the planning of surgical management.

Histologic Findings

Histologic studies are not routinely performed. However, basic science and clinical investigations have revealed interesting histopathologic differences between samples from exstrophy bladders and samples from normal age-matched controls.^[34] Specifically, there is 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.^[35]

Treatment & Management

MUECKE EC. THE ROLE OF THE CLOACAL MEMBRANE IN EXSTROPHY: THE FIRST SUCCESSFUL EXPERIMENTAL STUDY. J Urol. 1964 Dec. 92:659-67. [QxMD MEDLINE Link].
Woo LL, Thomas JC, Brock JW. Cloacal exstrophy: a comprehensive review of an uncommon problem. J Pediatr Urol. 2010 Apr. 6 (2):102-11. [QxMD MEDLINE Link].
Shetty MV, Bhaskaran A, Sen TK. Female epispadias. Afr J Paediatr Surg. 2011 May-Aug. 8 (2):215-7. [QxMD MEDLINE Link].
Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, et al. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. BJU Int. 2004 Dec. 94 (9):1337-43. [QxMD MEDLINE Link].
Gambhir L, Höller T, Müller M, Schott G, Vogt H, Detlefsen B, et al. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol. 2008 Apr. 179 (4):1539-43. [QxMD MEDLINE Link].
Wood HM, Babineau D, Gearhart JP. In vitro fertilization and the cloacal/bladder exstrophy-epispadias complex: a continuing association. J Pediatr Urol. 2007 Aug. 3 (4):305-10. [QxMD MEDLINE Link].
Wood HM, Trock BJ, Gearhart JP. In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: is there an association?. J Urol. 2003 Apr. 169 (4):1512-5. [QxMD MEDLINE Link].
Reutter H, Boyadjiev SA, Gambhir L, Ebert AK, Rösch WH, Stein R, et al. Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. J Pediatr. 2011 Nov. 159 (5):825-831.e1. [QxMD MEDLINE Link].
Beaman GM, Woolf AS, Cervellione RM, Keene D, Mushtaq I, Urquhart JE, et al. 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. Am J Med Genet A. 2019 Mar. 179 (3):404-409. [QxMD MEDLINE Link].
Jayachandran D, Bythell M, Platt MW, Rankin J. Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival. J Urol. 2011 Nov. 186 (5):2056-60. [QxMD MEDLINE Link].
Nelson CP, Dunn RL, Wei JT. Contemporary epidemiology of bladder exstrophy in the United States. J Urol. 2005 May. 173 (5):1728-31. [QxMD MEDLINE Link].
Cervellione RM, Mantovani A, Gearhart J, Bogaert G, Gobet R, Caione P, et al. Prospective study on the incidence of bladder/cloacal exstrophy and epispadias in Europe. J Pediatr Urol. 2015 Dec. 11 (6):337.e1-6. [QxMD MEDLINE Link].
Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, et al. Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet C Semin Med Genet. 2011 Nov 15. 157C (4):262-73. [QxMD MEDLINE Link].
Ebert AK, Bals-Pratsch M, Seifert B, Reutter H, Rösch WH. Genital and reproductive function in males after functional reconstruction of the exstrophy-epispadias complex--long-term results. Urology. 2008 Sep. 72 (3):566-9; discussion 569-70. [QxMD MEDLINE Link].
Kibar Y, Roth C, Frimberger D, Kropp BP. Long-term results of penile disassembly technique for correction of epispadias. Urology. 2009 Mar. 73 (3):510-4. [QxMD MEDLINE Link].
Woodhouse CR, North AC, Gearhart JP. Standing the test of time: long-term outcome of reconstruction of the exstrophy bladder. World J Urol. 2006 Aug. 24 (3):244-9. [QxMD MEDLINE Link].
Husmann DA, Rathbun SR. Long-term follow up of enteric bladder augmentations: the risk for malignancy. J Pediatr Urol. 2008 Oct. 4 (5):381-5; discussion 386. [QxMD MEDLINE Link].
Bujons A, Lopategui DM, Rodríguez N, Centeno C, Caffaratti J, Villavicencio H. Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. J Pediatr Urol. 2016 Aug. 12 (4):210.e1-6. [QxMD MEDLINE Link].
Stein R, Hohenfellner K, Fisch M, Stöckle M, Beetz R, Hohenfellner R. Social integration, sexual behavior and fertility in patients with bladder exstrophy--a long-term follow up. Eur J Pediatr. 1996 Aug. 155 (8):678-83. [QxMD MEDLINE Link].
Dy GW, Willihnganz-Lawson KH, Shnorhavorian M, Delaney SS, Amies Oelschlager AM, Merguerian PA, et al. Successful pregnancy in patients with exstrophy-epispadias complex: A University of Washington experience. J Pediatr Urol. 2015 Aug. 11 (4):213.e1-6. [QxMD MEDLINE Link].
Mathews RI, Gan M, Gearhart JP. Urogynaecological and obstetric issues in women with the exstrophy-epispadias complex. BJU Int. 2003 Jun. 91 (9):845-9. [QxMD MEDLINE Link].
Lee C, Reutter HM, Grässer MF, Fisch M, Noeker M. Gender-associated differences in the psychosocial and developmental outcome in patients affected with the bladder exstrophy-epispadias complex. BJU Int. 2006 Feb. 97 (2):349-53. [QxMD MEDLINE Link].
Mukherjee B, McCauley E, Hanford RB, Aalsma M, Anderson AM. Psychopathology, psychosocial, gender and cognitive outcomes in patients with cloacal exstrophy. J Urol. 2007 Aug. 178 (2):630-5; discussion 634-5. [QxMD MEDLINE Link].
Ebert A, Scheuering S, Schott G, Roesch WH. Psychosocial and psychosexual development in childhood and adolescence within the exstrophy-epispadias complex. J Urol. 2005 Sep. 174 (3):1094-8. [QxMD MEDLINE Link].
Weiss DA, Oliver ER, Borer JG, Kryger JV, Roth EB, Groth TW, et al. Key anatomic findings on fetal ultrasound and MRI in the prenatal diagnosis of bladder and cloacal exstrophy. J Pediatr Urol. 2020 Oct. 16 (5):665-671. [QxMD MEDLINE Link].
Maruf M, Benz K, Jayman J, Kasprenski M, Michaud J, Di Carlo HN, et al. Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience. Urology. 2019 Mar. 125:184-190. [QxMD MEDLINE Link].
Silver RI, Yang A, Ben-Chaim J, Jeffs RD, Gearhart JP. Penile length in adulthood after exstrophy reconstruction. J Urol. 1997 Mar. 157 (3):999-1003. [QxMD MEDLINE Link].
McHoney M, Ransley PG, Duffy P, Wilcox DT, Spitz L. Cloacal exstrophy: morbidity associated with abnormalities of the gastrointestinal tract and spine. J Pediatr Surg. 2004 Aug. 39 (8):1209-13. [QxMD MEDLINE Link].
Greene WB, Dias LS, Lindseth RE, Torch MA. Musculoskeletal problems in association with cloacal exstrophy. J Bone Joint Surg Am. 1991 Apr. 73 (4):551-60. [QxMD MEDLINE Link].
Davidoff AM, Hebra A, Balmer D, Templeton JM Jr, Schnaufer L. Management of the gastrointestinal tract and nutrition in patients with cloacal exstrophy. J Pediatr Surg. 1996 Jun. 31 (6):771-3. [QxMD MEDLINE Link].
Mathews R, Jeffs RD, Reiner WG, Docimo SG, Gearhart JP. Cloacal exstrophy--improving the quality of life: the Johns Hopkins experience. J Urol. 1998 Dec. 160 (6 Pt 2):2452-6. [QxMD MEDLINE Link].
Sawaya D, Goldstein S, Seetharamaiah R, Suson K, Nabaweesi R, Colombani P, et al. Gastrointestinal ramifications of the cloacal exstrophy complex: a 44-year experience. J Pediatr Surg. 2010 Jan. 45 (1):171-5; discussion 175-6. [QxMD MEDLINE Link]. [Full Text].
Connolly JA, Peppas DS, Jeffs RD, Gearhart JP. Prevalence and repair of inguinal hernias in children with bladder exstrophy. J Urol. 1995 Nov. 154 (5):1900-1. [QxMD MEDLINE Link].
Suson KD, Stec AA, Shimoda LA, Gearhart JP. Initial characterization of exstrophy bladder smooth muscle cells in culture. J Urol. 2012 Oct. 188 (4 Suppl):1521-7. [QxMD MEDLINE Link].
Mathews R, Wills M, Perlman E, Gearhart JP. Neural innervation of the newborn exstrophic bladder: an immunohistochemical study. J Urol. 1999 Aug. 162 (2):506-8. [QxMD MEDLINE Link].
Borer JG, Gargollo PC, Kinnamon DD, Bauer SB, Khoshbin S, Hendren WH, et al. Bladder growth and development after complete primary repair of bladder exstrophy in the newborn with comparison to staged approach. J Urol. 2005 Oct. 174 (4 Pt 2):1553-7; discussion 1557-8. [QxMD MEDLINE Link].
Gargollo PC, Borer JG, Diamond DA, Hendren WH, Rosoklija I, Grant R, et al. Prospective followup in patients after complete primary repair of bladder exstrophy. J Urol. 2008 Oct. 180 (4 Suppl):1665-70; discussion 1670. [QxMD MEDLINE Link].
Grady RW, Mitchell ME. Complete primary repair of exstrophy. J Urol. 1999 Oct. 162 (4):1415-20. [QxMD MEDLINE Link].
Mitchell ME. Bladder exstrophy repair: complete primary repair of exstrophy. Urology. 2005 Jan. 65 (1):5-8. [QxMD MEDLINE Link].
Shnorhavorian M, Grady RW, Andersen A, Joyner BD, Mitchell ME. Long-term followup of complete primary repair of exstrophy: the Seattle experience. J Urol. 2008 Oct. 180 (4 Suppl):1615-9; discussion 1619-20. [QxMD MEDLINE Link].
Bhatnagar V. Bladder exstrophy: An overview of the surgical management. J Indian Assoc Pediatr Surg. 2011 Jul. 16 (3):81-7. [QxMD MEDLINE Link]. [Full Text].
Baird AD, Nelson CP, Gearhart JP. Modern staged repair of bladder exstrophy: a contemporary series. J Pediatr Urol. 2007 Aug. 3 (4):311-5. [QxMD MEDLINE Link].
Chua ME, Ming JM, Fernandez N, Varghese A, Farhat WA, Bagli DJ, et al. Modified staged repair of bladder exstrophy: a strategy to prevent penile ischemia while maintaining advantage of the complete primary repair of bladder exstrophy. J Pediatr Urol. 2019 Feb. 15 (1):63.e1-63.e7. [QxMD MEDLINE Link].
Leclair MD, Villemagne T, Faraj S, Suply E. The radical soft-tissue mobilization (Kelly repair) for bladder exstrophy. J Pediatr Urol. 2015 Dec. 11 (6):364-5. [QxMD MEDLINE Link].
Ben-Chaim J, Hidas G, Wikenheiser J, Landau EH, Wehbi E, Kelly MS, et al. Kelly procedure for exstrophy or epispadias patients: Anatomical description of the pudendal neurovasculature. J Pediatr Urol. 2016 Jun. 12 (3):173.e1-6. [QxMD MEDLINE Link].
Leclair MD, Faraj S, Sultan S, Audry G, Héloury Y, Kelly JH, et al. One-stage combined delayed bladder closure with Kelly radical soft-tissue mobilization in bladder exstrophy: preliminary results. J Pediatr Urol. 2018 Dec. 14 (6):558-564. [QxMD MEDLINE Link].
Anwar AZ, Mohamed MA, Hussein A, Shaaban AM. Modified penile disassembly technique for boys with epispadias and those undergoing complete primary repair of exstrophy: long-term outcomes. Int J Urol. 2014 Sep. 21 (9):936-40. [QxMD MEDLINE Link].
Ko JS, Lue K, Friedlander D, Baumgartner T, Stuhldreher P, DiCarlo HN, et al. Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes. Urology. 2018 Jun. 116:168-171. [QxMD MEDLINE Link].
Fullerton BS, Sparks EA, Hall AM, Chan YM, Duggan C, Lund DP, et al. Growth morbidity in patients with cloacal exstrophy: a 42-year experience. J Pediatr Surg. 2016 Jun. 51 (6):1017-21. [QxMD MEDLINE Link].
Levitt MA, Mak GZ, Falcone RA Jr, Peña A. Cloacal exstrophy--pull-through or permanent stoma? A review of 53 patients. J Pediatr Surg. 2008 Jan. 43 (1):164-8; discussion 168-70. [QxMD MEDLINE Link].
Mathews R, Gearhart JP, Bhatnagar R, Sponseller P. Staged pelvic closure of extreme pubic diastasis in the exstrophy-epispadias complex. J Urol. 2006 Nov. 176 (5):2196-8. [QxMD MEDLINE Link].
Inouye BM, Tourchi A, Di Carlo HN, Young EE, Mhlanga J, Ko JS, et al. Safety and efficacy of staged pelvic osteotomies in the modern treatment of cloacal exstrophy. J Pediatr Urol. 2014 Dec. 10 (6):1244-8. [QxMD MEDLINE Link].
Haney NM, Crigger C, Sholklapper T, Mudalegundi S, Griggs-Demmin A, Nasr IW, et al. Pelvic osteotomy in cloacal exstrophy: a changing perspective. J Pediatr Surg. Submitted for publication.
Tank ES, Lindenauer SM. Principles of management of exstrophy of the cloaca. Am J Surg. 1970 Jan. 119 (1):95-8. [QxMD MEDLINE Link].
Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med. 2004 Jan 22. 350 (4):333-41. [QxMD MEDLINE Link].
Baker Towell DM, Towell AD. A preliminary investigation into quality of life, psychological distress and social competence in children with cloacal exstrophy. J Urol. 2003 May. 169 (5):1850-3. [QxMD MEDLINE Link].
Mirheydar H, Evason K, Coakley F, Baskin LS, DiSandro M. 46, XY female with cloacal exstrophy and masculinization at puberty. J Pediatr Urol. 2009 Oct. 5 (5):408-11. [QxMD MEDLINE Link].
Houk CP, Lee PA. Consensus statement on terminology and management: disorders of sex development. Sex Dev. 2008. 2 (4-5):172-80. [QxMD MEDLINE Link].
Jayman J, Tourchi A, Feng Z, Trock BJ, Maruf M, Benz K, et al. Predictors of a successful primary bladder closure in cloacal exstrophy: A multivariable analysis. J Pediatr Surg. 2019 Mar. 54 (3):491-494. [QxMD MEDLINE Link].
Husmann DA, Gearhart JP. Loss of the penile glans and/or corpora following primary repair of bladder exstrophy using the complete penile disassembly technique. J Urol. 2004 Oct. 172 (4 Pt 2):1696-700; discussion 1700-1. [QxMD MEDLINE Link].
Schaeffer AJ, Purves JT, King JA, Sponseller PD, Jeffs RD, Gearhart JP. Complications of primary closure of classic bladder exstrophy. J Urol. 2008 Oct. 180 (4 Suppl):1671-4; discussion 1674. [QxMD MEDLINE Link].
Krishnamsetty RM, Rao MK, Hines CR, Saikaly EP, Corpus RP, DeBandi HO. Adenocarcinoma in exstrophy and defunctional ureterosigmoidostomy. J Ky Med Assoc. 1988 Aug. 86 (8):409-14. [QxMD MEDLINE Link].
Surer I, Ferrer FA, Baker LA, Gearhart JP. Continent urinary diversion and the exstrophy-epispadias complex. J Urol. 2003 Mar. 169 (3):1102-5. [QxMD MEDLINE Link].
Friedlander DA, Di Carlo HN, Sponseller PD, Gearhart JP. Complications of bladder closure in cloacal exstrophy: Do osteotomy and reoperative closure factor in?. J Pediatr Surg. 2017 Nov. 52 (11):1836-1841. [QxMD MEDLINE Link].
Davis R, Sood A, Maruf M, Singh P, Kasprenski MC, DiCarlo HN, et al. The failed bladder closure in cloacal exstrophy: Management and outcomes. J Pediatr Surg. 2019 Nov. 54 (11):2416-2420. [QxMD MEDLINE Link].
Goldstein SD, Inouye BM, Reddy S, Lue K, Young EE, Abdelwahab M, et al. Continence in the cloacal exstrophy patient: What does it cost?. J Pediatr Surg. 2016 Apr. 51 (4):622-5. [QxMD MEDLINE Link].
Reiner WG, Gearhart JP, Kropp B. Suicide and suicidal ideation in classic exstrophy. J Urol. 2008 Oct. 180 (4 Suppl):1661-3; discussion 1663-4. [QxMD MEDLINE Link].

Media Gallery

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 umbilicus and short, broad, upturned phallus. Distance between phallus and scrotum is abnormal. Courtesy of Richard Rink, MD.
External view in female patient with epispadias. Labia are separated anteriorly. Courtesy of Richard Rink, MD.
Female patient with epispadias with labia retracted. Clitoris is bifid, and urethra is open dorsally. Courtesy of Richard Rink, MD.
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.
46,XY newborn with cloacal exstrophy. Very large omphalocele is present, and hemibladders flank exstrophic cecal plate. Phallus is small and bifid, with hemiglans and hemiscrotum located just distal to bladder. Courtesy of Martin Kaefer, MD.
Lipomeningocele in same newborn shown in Image 6, 46,XY newborn with cloacal exstrophy. Courtesy of Martin Kaefer, MD.
Superior vesical fissure variant of exstrophy. Genitalia are normal. Patent urachus is considered in differential diagnosis, although opening is well below umbilicus. Rectus abdominis and pubic abnormalities are found in exstrophic variant but not with patent urachus. Courtesy of Richard Rink, MD.
Female with covered exstrophy. Umbilicus is very low, pubic bones are widely separated, and rectus muscles are divergent. Bladder is intact, but patient has undergone bladder neck reconstruction to achieve urinary continence. External genitalia are normal. Courtesy of Elizabeth Yerkes, MD.
Typical appearance of pelvis in patient with exstrophy-epispadias complex with wide separation of pubic symphysis.
Bilateral vesicoureteral reflux and small-capacity bladder after initial exstrophy closure. Contrast escapes readily through incompetent bladder neck.
Use of plastic wrap to protect delicate bladder mucosa in newborn with bladder exstrophy. Courtesy of Richard Rink, MD.
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.
Male infant with cloacal exstrophy. Note large omphalocele with separated hemibladders and genitalia with protruding ileocecal segment yielding classic "elephant trunk" deformity. Courtesy of John P Gearhart, MD.
Young male with left hemiglans loss after complete primary repair for classic bladder exstrophy (CPRE). Courtesy of John P Gearhart, MD.

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Exstrophy and Epispadias Workup

Laboratory Studies

Imaging Studies

Histologic Findings

References

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