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Bladder Abnormalities

Developmental anomalies

• Prenatal bladder normally visible in 50% by 10 weeks, 100% by 13 weeks
• Bladder agenesis: can only be diagnosed after 15-20 minutes visualization to make sure bladder is not just empty, compatible with life only if ureters drain into mullerian structures (female) or rectum (male), treat with ureterosigmoidostomy
• Megacystis: prenatally dilated bladder, spontaneously resolves if no obstructive uropathy and normal karyotype
• Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): presents prenatally with distended bladder, presents postnatally with abdominal distension and inability to pass meconium, managed with ileostomy + Gtube + TPN, may require small intestine transplant, most will require CIC +/- vesicostomy
• Duplication: can be complete or incomplete, 90% have external genital abnormalities, 42% have GI abnormalities, goals are removing obstruction and preserving renal function

Bladder diverticula

• VCUG provides best imaging to confirm diagnosis
• Primary Hutch: otherwise smooth-walled bladder, no other diverticula, no evidence obstruction
• Secondary Hutch: other diverticula present in trabeculated bladder, caused by infravesical obstruction
• Asymptomatic diverticula can be treated conservatively
• Surgical intervention warranted if VUR, stones, UTI

Acquired bladder conditions

• Hemangiomas: seen with syndromes, may cause hematuria/dysuria, manage with biopsy/fulguration or partial cystectomy (if large)
• Polyps: may present with hematuria/dysuria or obstruction, manage with resection
• Nephrogenic adenoma: manage with resection, 80% recurrence rates
• Eosinophilic cystitis: present with hematuria/dysuria, retention, and SP pain, biopsy shows eosinophils throughout specimen, manage with combination of steroids + antihistamines + antibiotics once diagnosed via biopsy
• Hemorrhagic cystitis: related to either cyclophosphamide/ifosfamide, viral infection, or radiation

Urachal anomalies

• Patent urachus: urachal canal fails to obliterate, only 14% have some form of bladder obstruction, may have persistent drainage via umbilicus, diagnose with fistulogram or VCUG, drain if infected
• Urachal sinus: obliterated at bladder but open to umbilicus, diagnose with fistulogram (negative VCUG findings)
• Urachal cyst: no clear communication with bladder/umbilicus, but may drain intermittently, can become infected, diagnose with US/CT/MR
• Urachal diverticulum: urachus obliterates except at bladder apex, may cause stones or UTI
• Management: urachal remnant should be completely excised, include bladder cuff if attached

Exstrophy/Epispadias Complex

Epidemiology and Prenatal Diagnosis

• Incidence: 2.15 per 100K live births
• If prior child with bladder exstrophy, chances of future child are 1:100
• Chances of patient with exstrophy having a child with exstrophy: 1:70
• Prenatal US: may note absence of bladder filling, low-set umbilicus, widened pubic ramus, small genitals, and lower abdominal mass
• Neonatal evaluation: obtain renal US to assess for hydronephrosis, pelvic XR to assess pubic diastasis, and spinal US to assess for spina bifida

Bladder considerations

• Bladder mucosa should be immediately protected with membrane to prevent metaplastic changes
• Bladder neds to be examined under anesthesia to adequately assess depth of bladder extension
• Reflux will always happen in closed bladder and reimplantation is required

Genital considerations

• Corpora cavernosa are shorter and wider than normal
• Testes may be retractile but fertility is normal
• Retrograde ejaculation may occur even after bladder neck reconstruction
• Uterine prolapse more common due to poor pelvic floor support

Other considerations

• Workup: check CBC/BMP, renal US (risk for renal anomalies), and KUB (assess pubic diastasis)
• Orthopedic abnormalities result in waddling gait and outward limb rotation
• Levator ani positioned posteriorly and laterally
• Inguinal hernias present in 82% boys and 11% girls
• Anus positioned more anteriorly, 2% incidence of GI anomalies - imperforate anus, rectal stenosis, rectal prolapse

Repair considerations

• Will require bladder closure, abdominal wall closure, posterior urethral closure, osteotomies, epispadias repair, bladder neck reconstruction, and antireflux procedure
• Osteotomy goals: relaxing tension on GU repairs
• Primary closure: maintain adequate bladder and ureteral drainage
• If primary repair attempts fail, can consider ureterosigmoidostomy or complete urinary diversion

Repair complications

• Penile ischemia: due to corporal injury, more common if osteotomies not performed
• Urethrocutaneous fistula: seen in 5-40%, may spontaneously close if SPT placed, if not may require repeat reconstruction
• Dehiscence: uncommon, may occur with bladder or abdominal wall, requires redo reconstruction
• Urethral obstruction: evaluate with cystoscopy, may require SPT or CIC
• Epididymitis: 19-33%, evaluate for high pressure voiding and strictures
• Malignancy: adenocarcinoma most common, increased risk if colon used for augment
• MSK: increased risk for gait abnormalities and hip/pelvic pain later in life

Longterm issues (into adulthood)

• UTI: common, exacerbated by presence of VUR, can cause longterm renal injury
• Male genital: phallus size/appearance, difficulty with penetration, difficulty with condom sizing, management may require specialized center referrals
• Female genital: increases risk for pelvic prolapse (onset at younger age than general population), C-section recommended
• Urinary: increased risk for stress incontinence after outlet surgery (high dependence on bladder neck for baseline continence)

Cloacal exstrophy

• Will have features of bladder exstrophy, along with exstrophy of terminal ileum, imperforate anus, and omphalocele
• Spinal abnormalities noted in 85-100%
• Uterine duplication seen in > 90% patients

Eagle Barrett syndrome (Triad, Prune-Belly)

General considerations

• 3 main findings: deficient abdominal muscles, bilateral intraabdominal testes, and urinary tract anomalies (hydronephrosis, renal dysplasia, tortuous ureters, enlarged bladder, dilated prostatic urethra)
• Most important determinant of long-term survival is severity of urinary tract anomalies (especially renal dysplasia)
• Female patients lack gonadal abnormalities
• no clear genetic/embryologic etiology

GU findings

• Renal dysplasia present in 50%
• Vesicoureteral reflux present in 75%
• Urachus present at birth in 25-30%
• Normal voiding, normal flow rates, and normal postvoid residual seen in 50%
• Retrograde ejaculation due to incompetent bladder neck
• Urethral atresia common, lethal unless patent urachus
• Most severely affected abdominal wall may consist solely of skin, subQ fat, and fibrous preperitoneal layer

Non-GU findings

• Seen in 75%, mainly cardiac, pulmonary, orthopedic
• Up to 10% cardiac anomalies - patent ductus arteriosus, ASD/VSD, tetralogy of Fallot
• Higher risk for respiratory infections due to inability to generate significant intraabdominal pressure
• Up to 30% GI anomalies - incomplete rotation, imperforate anus, lifelong constipation
• Up to 65% orthopedic anomalies - clubfoot (26%), hip dysplasia (5%), scoliosis (4%)

Presentation/Diagnosis

• Prenatal US at ~30 weeks may see hydronephrosis, distended bladder, irregular abdominal circumference
• Category I: severe pulmonary hypoplasia and skeletal abnormalities
• Category II: non-prominent pulmonary hypoplasia, usually renal insufficiency and hydronephrosis
• Category III: mild/incomplete features, no pulmonary hypoplasia
• Incomplete: unilateral abdominal wall deficiency and unilateral undescended testis, risk for ernal insufficiency
• Adult presentation: if lacking abdominal wall features, may present with renal failure and HTN, UTIs due to chronic urinary stasis
• Attempt to maintain creatinine < 0.7, predictive of good renal function

Management

• Prenatal intervention warranted if concern for urethral atresia with oligohydramnios, otherwise lethal
• Circumcision recommended to minimize UTI risks
• Obtain renal US for baseline assessment of renal parenchyma
• VCUG assesses BOO and VUR
• Antibiotic prophylaxis required for any GU instrumentation
• Upper tract surgeries: vesicostomy, ureteroplasty, ureterocystoneostomy
• Lower tract surgeries: reduction cystoplasty, internal urethrotomy, urethroplasty
• Genital surgeries: orchiopexy
• Abdominal wall: reconstruction warranted for cosmetic or functional benefits
• Category I: supportive care only, minimal/no benefit to interventions
• Category II: individualized interventions based on severity
• Category III: regular renal US and BMP, correct cryptorchidism and VUR

Posterior Urethral Valves and other Urethral Abnormalities

Pathophysiology

• Bladder outlet obstruction during development leads to downstream effects
• Bladder becomes hypertrophied to compensate for obstruction but empties well with some reflux
• Polyuria from renal dysplasia and glomerular damage leads to incomplete bladder emptying, leading to further reflux and renal damage
• Natural course: detrusor hyperreflexia in infancy -> improved compliance in childhood -> increased capacity with hypocontractility in adolescence (myogenic failure)
• Valve bladder syndrome: caused by polyuria, bladder insensitivity, elevated post-void residuals

Diagnosis

• Prenatal US findings: thickened dilated bladder, bilateral hydroureter/nephrosis, oligohydramnios, dilated posterior urethra (keyhole sign)
• 50% diagnosed prenatally, 25% diagnosed as neonates, 25% diagnosed after presenting with UTI
• Postnatal US findings: thickened distended bladder, possible diverticula, dilated posterior urethra, high bladder neck with hyperplasia, dilated ureters, dysplastic kidneys, possible urinoma
• VCUG findings (definitive test): dilated posterior urethra, bladder neck hypertrophy, dilated ejaculatory ducts, thickened/trabeculated bladder with diverticula, 50% have vesicoureteral reflux, abrupt urethral funneling (obstructing leaflets) - may require coude catheter

Initial management

• No clear benefit to vesicoamniotic shunting
• PLUTO trial: vesicoamniotic shunt vs conservative managment, poor accrual, only 2 children survived to 2yo, intervention increases risk for pregnancy loss
• Catheter (5-7Fr feeding tube) should be placed to optimize urinary drainage, avoid filling balloon to prevent bladder spasms
• Pulmonary hypoplasia is most concerning cause of perinatal mortality
• Urinoma drainage: required infrequently, only if causing respiratory distress or severe abdominal distension
• Valve ablation: performed with direct visualization with Bugbee at 5 + 7 or 12 o'clock, catheter left for 24+hrs
• Vesicostomy: reserved for infants unable to undergo endoscopy due to size/prematurity or continued upper tract deterioration despite valve ablation
• Upper tract diversion: rarely indicated
• Circumcision: recommended to reduce UTI risk, perform prior to considering reimplantation
• VUR: 25-40% resolve with ablation or vesicostomy alone

Long term management

• Repeat VCUG 2-3mo after valve ablation, trend renal appearance with regular ultrasounds
• Obtain uroflow and check PVR to screen for valve bladder syndrome (myogenic failure)
• Daytime incontinence 7-35%, enuresis 25%
• Do not push toilet training, then encourage double/timed voiding and adequate fluid intake
• Consider CIC, can start early to familiarize the child/family
• Can consider a-blockers or anticholinergics but no clear recommendations
• Nocturnal drainage (catheterization) recommended if worsening upper tract dilation, renal function, or UTIs
• Reflux: keep on prophylaxis until reflux resolves, surgical repair high risk for failure due to high pressure bladders
• APV: can consider if nocturnal catheterization difficult due to bladder neck hypertrophy or sensate urethra
• Renal problems: polyuria due to inability to concentrate urine, salt-loss nephropathy due to renal injury, metabolic acidosis, osteodystrophy, and growth issues
• ESRD: occurs in 20-50%, low risk if creatinine < 0.8 and high risk if > 1.2 at 1yo
• Transplant: potential option, but higher risk for failure due to poor bladder function

Anterior urethral valves

• Less common than posterior valves (25-30x)
• Present with postvoid dribbling, penile bulging, palpable bladder, renal insufficiency, UTIs
• VCUG confirms diagnosis with dilated anterior urethra
• Management: valve ablation
• Prognosis: 78% have normal renal function after treatment

Other urethral abnormalities

• Congenital fistula: can be associated with chordee or imperforate anus
• Urethral duplication: rare (200 cases), usually dorsal urethra is accessory, associated with GI/GU abnormalities, assess with RUG/VCUG + cystoscopy
• Urethral atresia: usually incompatible with life unless patent urachus, can treat with vesicostomy
• Urethrorrhagia: blood spotting after urination, usually benign and self-resolving, usualy peripubertal, cystoscopy not recommended (high risk for stricture development)