Stoermer J, Olbing H, Hentrich F, Even K, Galal O, Bachmann J
Monatsschr Kinderheilkd. 1984 Feb;132(2):110-2.
We investigated the urinary tract in 19 out of 30 children having the Williams-Beuren-Syndrome. 14 of these children showed all signs of the syndrome, whereas 8 children had only the typical cardiological findings without the pathognomonic facies and without major mental retardation. These two different types will be designed as type I and type II respectively. In 12 of the children belonging to type I there were anomalies of the kidneys and the lower urinary tract including 1 child having nephrocalcinosis. The various anomalies were found as single or combined lesions. As for type II there was only 1 child (out of 5) that showed a stenosis of the urethra and at the origin of the ureter in combination with a hydronephrosis. The frequency of anomalies of the urinary tract appears to be very high in type I. However, because of the small number of patients it is impossible to reach statistical significance in comparing the different frequencies within type I and type II. Further investigations are necessary to clarify the problem.
我们对30名患有威廉姆斯-贝伦综合征的儿童中的19名进行了尿路检查。其中14名儿童表现出该综合征的所有症状，而8名儿童仅有典型的心脏病学表现，没有特征性面容且无严重智力发育迟缓。这两种不同类型将分别被设计为I型和II型。在属于I型的12名儿童中，存在肾脏和下尿路异常，其中1名儿童患有肾钙质沉着症。各种异常表现为单一或合并病变。至于II型，（5名儿童中）仅有1名儿童表现出尿道狭窄以及输尿管起始处合并肾积水。I型中尿路异常的发生率似乎非常高。然而，由于患者数量较少，在比较I型和II型内不同发生率时无法达到统计学意义。需要进一步研究来阐明这个问题。
