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Exstrophy-epispadias complex

Variety of congenital conditions affecting the urinary tract and bony and muscular pelvis ranging from simple epispadias to severe multisystem defect like cloacal exstrophy

Males more affected 3:1 to 6:1

1 : 50 000.

Risk increases with family history (parent or sibling), suggesting some as yet undiagnosed genetic contribution.

Variants include:

  • Classic bladder exstrophy
  • Epispadias
  • Cloacal exstrophy

Embryology

Defect in development of the cloacal membrane.

Failure of migration of mesoderm to the area of the cloacal membrane – with subsequent lack of development of an intermediate layer between endoderm (inner) and ectoderm (outer) layers – resulting in inhibition of abdominal wall and pelvis development.

The urorectal septum develops during week 5 and 6 and separates cloaca to anterior urogenital sinus and posterior anorectal canal – cloacal exstrophy must occur before urorectal septum development, classic bladder exstrophy after.

Anatomy / Clinical Features (classic bladder exstrophy)

Anterior abdominal wall defect, with the bladder on show and exposed – associated with epispadias defect in boys and bifid clitoris in girls.

Abdominal wall defect often triangular from umbilicus to intrasymphyseal band which connects posterior urethra and bladder neck to pubic rami which are separated

Abnormal bony pelvis with splayed or separated pubic symphysis, and everted pubic rami, with rotation often leading to anterior displacement of anus and vagina

Pubic diastasis leads to separation of the corporal bodies laterally – leading to short broad phallus in boys and bifid clitoris with divergent labia in girls.

Other associations:

  • Misplaced ureteric orifices with abnormal mucosal tunnel and invariably reflux.
  • Inguinal herniae common, patent processus vaginalis
  • Pelvic floor muscular defects leading to incontinence
  • Anogenital issues (imperforate anus, rectal prolapse) more likely cf. normal population
  • Spinal abnormalities more common in CBE cf. normal population, and very common with cloacal exstrophy

 

Cloacal exstrophy

More severe variant with failure of the urorectal septum, and therefore bowel is included in the abdominal wall defect, often separating two halves of bladder.

Often more severe defects such as failure of the corpora to join at all, and omphalocele.

Other anorectal malformations (imperforate anus) very common. Spinal abnormalities very common.

 

Primary epispadias

Mild variant with often complete pelvic ring and normal abdominal wall.

Urethra opens on dorsal aspect of penis, which may be at the glans, shaft or even more proximal.

May occur with girls too with separation of the clitoris and bladder neck failure with stress incontinence.

Diagnosis

Can be diagnosed on antenatal ultrasound, but only 25 % are.

Otherwise diagnosed at birth.

 

Management

Early recognition and transfer to a specialist centre is important.

  • If detected antenatally, appropriate counselling for decision making, and then planned delivery at specialist centre
  • Keep baby warm, well oxygenated and hydrated with dextrose containing fluids
  • Cover exposed bladder plate with cling wrap

Goals of management are:

  1. Optimisation of urinary continence
  2. Preservation of kidney function (low pressure, safe storage)
  3. Aesthetically acceptable genitals with preservation of sexual function and fertility
  4. Sound closure of the abdominal wall

Multidisciplinary management – neonatologist, paeds urologist, paeds ortho, paed anaesthetist, psychology/parental support.

Other considerations:

  • ?Epidural vs post operative intubation/sedation to allow immobilisation and healing
  • Inguinal hernia is common and may be repaired at the same time
  • Need for osteotomies – usually after 72 hours – to facilitate tension free abdominal wall closure
  • Good drainage of urine – bilateral ureteric stents/catheters externalised +/- bladder stent/SPC depending on bladder capacity
  • Prophylactic antibiotics and antifungals

 

Different management strategies:

  1. Complete primary repair of exstrophy (CPRE)
  2. Staged repairs
    1. Modern staged repair of exstrophy (MSRE)
    2. Staged radical soft tissue mobilisation (RSTM)

CPRE:

  • Developed by Mitchell
  • Closure of the bladder plate and urethra, and well as epispadias reconstruction by complete penile disassembly
  • Usually involves division in intrasymphyseal ligaments after penile disassembly to eliminate tension and allow bladder to sit deeper
  • Bladder neck reconstruction often required at a later date to facilitate continence

MSRE

  • Gearhart
  • Sound primary closure of abdominal wall and bladder as a neonate, with pelvic osteotomies
  • In girls, genitoplasty and urethroplasty performed at same time as neonate
  • In boys, genital reconstruction and urethroplasty deferred to 6 – 12 months old
  • Bladder neck reconstruction then follows around age 5-9

 

RSTM

  • Kelly (Aust)
  • Primary bladder and abdominal wall closure as neonate, often without osteotomies
  • Bladder neck reconstruction and epispadias repair usually around 9 – 18 months
  • Levator fibres divided and pudendal nerve bundle exposed, with corpora mobilised off pubic symphysis to lengthen, and complete penile disassembly
  • Rectus muscles detached and rotated to midline, and bladder neck striated muscle detached laterally and wrapped around bladder neck
  • Cohen bilateral re-implant

Overall continence rates reported around 70 % for all procedures.

 

Complications & follow-up

Complications:

  • Dehiscence of abdominal wall
  • Bladder outlet obstruction
  • Upper tract dilation and renal deterioration after bladder outlet tightening
  • Bacterial and fungal infection
  • Ileus and SBO
  • Orthopaedic – bleeding from osteotomies, non-healing or non-union, leg length discrepancy, osteomyelitis
  • Genital ischaemia rare but devastating
  • Bladder outlet stenosis or urethrocutaneous/vesicocutaneous fistulae in medium term

Long term outcomes:

  • Renal impairment up to 25 % (combination BOO, VUR, UTIs)
  • Detrusor failure if bladder neck too tight -> ISC or Mitrofanoff
  • Stones common
  • Risk of malignancy in reconstructed exstrophy bladder estimated 4 %
  • Persistent chordee common, although erections usually OK
  • Fertility rates low – reported as low as 5 % for natural fertility
  • Ejaculatory duct damage during surgery, retrograde ejaculation, +/- episodes of epididymo-orchitis, +/- ED, +/- cryptorchidism
  • Prolapse common in women, pregnancy rates good

Cloacal exstrophy cases difficult due to usual concomitant neuropathy – initial reconstruction including colostomy. Severe other medical issues. Usually go on to require augment and catheterisable channel. Insufficient male genitals are a challenge.