Delayed Presentation of Urethral Valves: A Diagnosis That Should Be Suspected Despite a Normal Prenatal Ultrasound

Abstract

Background. Congenital urethral obstruction occurs most frequently as a result of urethral valves. The diagnosis is usually confirmed pre- or neonatally. Though not ideal, delayed diagnosis can occur in childhood, adolescence, or adulthood. Despite a normal prenatal ultrasound, there may still be a delayed diagnosis of urethral valves. Methods. We present 4 patients with delayed diagnosis of posterior urethral valves (PUV) and 1 patient with delayed diagnosis of anterior urethral valves (AUV) who were evaluated by a pediatric urologist at our Institution. We determined the age and symptoms at presentation, physical examination, micturating cystourethrogram (MCU) findings prior to the valve ablation, renal function before and after valve ablation, type of valve ablation, and urine culture and sensitivity. The urological courses following urethral valve ablation including urodynamic study findings are described. Results. The median age at presentation was 33 months. All 5 patients presented with decreased urine output and urinary retention. All 5 patients underwent a MCU that demonstrated bladder trabeculations (3 cases), vesicoureteral reflux (3 cases), and bladder diverticula (2 cases). A urethral valve ablation was performed in all cases. Four patients underwent a renal function panel prior to this procedure, and their serum BUN/creatinine levels decreased 1 day postoperatively. Conclusion. Pediatricians should consider urethral valves as causing urethral obstruction although the prenatal ultrasound may be normal. Early diagnosis and prompt treatment of urethral valves may mitigate the potentially devastating morbidities such as renal failure, congestive heart failure, and respiratory distress that may ensue.

Posterior urethral valves: Role of prenatal diagnosis and long-term management of bladder function; a single center point of view and review of literature

“…The only real difference between the two groups concerned urinary tract infections, which were more frequent in the post-natal diagnosis group. In contrast, Shields et al published that patients with a late diagnosis of PUV have a worse prognosis, due to prolonged exposure of the kidney to higher pressures (7,9). The conflicting results of these studies could be explained by the wide spectrum of PUV severity.…”

“…Based on the timing of presentation and the degree of BOO, the effects of PUV are variable in severity, ranging from a fatal condition in infancy to less severe forms presenting during childhood with lower urinary tract symptoms (LUTS). However, a later presentation can also be the result of a missed diagnosis (7,8).…”

Imaging and clinical findings in late presenting posterior urethral valves in a resource-constrained economy

“…8 In Low and Middle-Income Countries (LMIC) diagnosis is often made in the postnatal period based on clinical features and imaging findings. 7,9,10 In late presentation prolonged and unrelieved lower urinary tract obstruction leads to back pressure effects on the upper urinary tracts resulting in obstructive uropathy with renal impairment. 11 The proper drainage of the upper urinary tract is hampered by a combination of poor bladder sensation, high bladder volumes, and poor compliance producing high storage pressures.…”

“…11 The proper drainage of the upper urinary tract is hampered by a combination of poor bladder sensation, high bladder volumes, and poor compliance producing high storage pressures. Delayed presentation of PUV has a worse prognosis compared to early presentation as prolonged renal damage results in poor long-term outcomes, 10 with long-term morbidity and further operative procedures. 12 It has also been observed that presentation at extremes of life was associated with poorer outcomes.…”