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BACKGROUND: Anorectal malformation (ARM) patients are known to have an increased incidence of urologic (GU) anomalies. Although there is a known association, urologic data is limited in regards to ARM and the impact on GU development and function. The complexity of ARM and its initial work up may potentially underemphasize associated GU anomalies, which could lead to delayed or undetected GU diagnoses. Our goal was to examine the evaluation of ARM patients in the diagnosis and treatment of concomitant GU anomalies.
METHODS: We reviewed the charts of patients with the diagnosis of ARM who had received care at our institution between 12/1/1988 and 12/31/2009. Data collected included demographics, category of ARM, associated anomalies, GU diagnoses, studies performed, and any surgical intervention.
RESULTS: 107 patients with ARM were identified between 12/1/1988 and 12/31/2009. 49 were female and 58 male. Classifications included perineal fistula (44 patients), vestibular fistula (21), rectourethral fistula (17), rectovaginal fistula (2), rectovesicular fistula (5), no fistula (2), cloaca (11), unknown (5). Of the 107 patients, 53 (49.5%) were found to have a GU diagnosis, including vesicoureteral reflux (17), hydronephrosis (13), neurogenic bladder (11), undescended testicle (10), hypospadias (10), renal agenesis (7), duplicated collecting system (6), renal ectopia (2). The incidence of GU anomalies within the ARM classifications were as follows: perineal fistula (22.7%), vestibular fistula (47.6%), rectourethral fistula (76.5%), rectovaginal fistula (50%), rectovesicular fistula (80%), no fistula (50%), cloacal (90.9%), unknown (60%). The incidence of GU abnormalities was significantly higher in patients with higher levels of ARM, although there were clinically relevant GU anomalies found in patients with lower ARMs. Of the 53 patients with GU anomaly, 32 (60.4%) underwent a GU surgical procedure, including vesicostomy (8), ureteral reimplantation (11), and bladder augmentation (6). Of the 54 patients without a GU diagnosis, 48 patients underwent renal ultrasound and 14 had voiding cystourethrogram.
CONCLUSIONS: There is a clear association between GU anomalies and ARM, and significant GU anomalies can be found across all classifications of ARM. This data suggests a comprehensive approach toward the ARM patient should be taken, including a thorough GU evaluation. Initial urology assessment of all ARM patients will optimize care and avoid delayed or missed GU diagnoses.