Gotoh T, Shinno Y, Kobayashi S, Watarai Y, Koyanagi T
Department of Urology, Hokkaido University School of Medicine, Sapporo, Japan.
Eur Urol. 1991;20(4):287-92. doi: 10.1159/000471719.
Herein, the diagnosis and management of 14 cases with sacral agenesis experienced in the last 15 years were reviewed. Age at first presentation tended to be older than that of meningomyelocele patients. All the children displayed partial sacral agenesis or hemisacrum. Occult spinal dysraphism was found in 8. Frequent association of genitourinary and anorectal anomalies required important alterations in the management. Vesicoureteral reflux was found in 8 patients but most of them were treated conservatively. Thirteen children underwent urodynamic evaluation on more than 1 occasion and 12 displayed neurogenic bladder dysfunction (upper motor type 6, lower motor type 5, upper and lower type 1). However, the diagnosis of bladder dysfunction was not final. Clean intermittent catheterization was most frequently assigned but it was difficult in some cases with urethral abnormalities. Overall, 5 children required surgical intervention for their urinary tract, 4 of whom needed multiple procedures. As a result, half the children achieved continence and 1 child, who awaited reconstructive surgery, had slightly elevated serum creatinine. In summary, early diagnosis, complete neurourological evaluation and adequate management with careful follow-up monitoring risk factors to the upper urinary tract are mandatory.
在此，我们回顾了过去15年中诊治的14例骶骨发育不全病例。初次就诊时的年龄往往比脊髓脊膜膨出患者大。所有患儿均表现为部分骶骨发育不全或半骶骨。8例发现隐性脊柱裂。泌尿生殖系统和肛门直肠畸形的频繁合并需要在治疗上做出重要调整。8例患者发现膀胱输尿管反流，但大多数采用保守治疗。13名儿童接受了不止一次尿动力学评估，其中12例表现为神经源性膀胱功能障碍（上运动神经元型6例，下运动神经元型5例，上下运动神经元混合型1例）。然而，膀胱功能障碍的诊断尚未确定。清洁间歇性导尿是最常用的方法，但在一些尿道异常的病例中实施困难。总体而言，5名儿童需要对其泌尿系统进行手术干预，其中4名需要多次手术。结果，一半的儿童实现了控尿，1名等待重建手术的儿童血清肌酐略有升高。总之，早期诊断、全面的神经泌尿学评估以及对影响上尿路的危险因素进行仔细随访监测的适当管理是必不可少的。
