OBJECTIVE: To evaluate urologic manifestations of sacral agenesis (SA) and their association with bony defects. METHODS: Urological manifestations of SA were investigated in 50 patients referred to the urology or neurosurgery department. Urologenital signs and symptoms were assessed and a complete history of previous surgical procedures was attained. Plain lumbosacral radiography, abdominal/pelvic ultrasound, voiding cystourethrogram and urodynamic study were evaluated if available. RESULTS: The most common urologic complaints were urinary incontinence and/or constant dribbling, seen in 30 (85%) of 35 children aged 4 years and over. Recurrent urinary tract infection, the second most common, was seen in 37 (74%). Vesicoureteral reflux was identified in 32 (65.3%) patients, 19 (59.3%) were found to have high maximal voiding pressures and post-voiding residual urine was notable in 42 (85.7%). Abnormal urodynamic parameters were found to be consistent with a neurogenic bladder in all patients. Cases were divided into upper motor lesions (in 34) and lower motor disorders (in 15). There was no statistically significant correlation for any GU finding with type of bony aplasia or motor neuron lesion (P = 0.338). CONCLUSION: Voiding impairment and VUR together with recurrent UTI, especially in children with associated renal anomalies, contribute to renal damage. Urinary incontinence with associated social problems frequently occurs in patients with SA. Considering the devastating consequences of this disease in the urinary tract, timely diagnosis, thorough evaluation and appropriate intervention are essential. Copyright Â
OBJECTIVE: To evaluate urologic manifestations of sacral agenesis (SA) and their association with bony defects. METHODS: Urological manifestations of SA were investigated in 50 patients referred to the urology or neurosurgery department. Urologenital signs and symptoms were assessed and a complete history of previous surgical procedures was attained. Plain lumbosacral radiography, abdominal/pelvic ultrasound, voiding cystourethrogram and urodynamic study were evaluated if available. RESULTS: The most common urologic complaints were urinary incontinence and/or constant dribbling, seen in 30 (85%) of 35 children aged 4 years and over. Recurrent urinary tract infection, the second most common, was seen in 37 (74%). Vesicoureteral reflux was identified in 32 (65.3%) patients, 19 (59.3%) were found to have high maximal voiding pressures and post-voiding residual urine was notable in 42 (85.7%). Abnormal urodynamic parameters were found to be consistent with a neurogenic bladder in all patients. Cases were divided into upper motor lesions (in 34) and lower motor disorders (in 15). There was no statistically significant correlation for any GU finding with type of bony aplasia or motor neuron lesion (P = 0.338). CONCLUSION: Voiding impairment and VUR together with recurrent UTI, especially in children with associated renal anomalies, contribute to renal damage. Urinary incontinence with associated social problems frequently occurs in patients with SA. Considering the devastating consequences of this disease in the urinary tract, timely diagnosis, thorough evaluation and appropriate intervention are essential. Copyright Â
Authors: Marine Nalbandyan; Meredith M Howley; Christopher M Cunniff; Paul A Romitti; Marilyn L Browne Journal: Am J Med Genet A Date: 2019-07-11 Impact factor: 2.802