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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