Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome.
Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome.
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DOI：
10.1002/(sici)1096-8628(19960503)63:1
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发表时间：
1996-05
期刊：
影响因子：
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通讯作者：
R. Pankau;C. Partsch;Martin Winter;A. Gosch;Armin Wessel
中科院分区：
文献类型：
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作者：
R. Pankau;C. Partsch;Martin Winter;A. Gosch;Armin Wessel
对130例Williams-Beuren综合征患者（女性59例，中位年龄5.5岁;男性71例，中位年龄6.4岁）进行了系统的肾脏和尿路超声检查。此外，测定血清肌酐并进行分析。79例患者的肌酐清除率可用。18例行肾动脉造影检查，其中8例（44%）有肾动脉狭窄。Williams-Beuren综合征患者肾脏畸形的发生率为17.7%，而正常人群为1.5%（P < 0.0003）。这些异常的范围从轻微异常（如膀胱憩室）到更严重的畸形（如肾发育不全或发育不全）（130例患者中有5例）。在9例患者中发现了重复肾，肌酐清除率降低（2例），复发性尿路感染（4例）和高血压并不常见。我们的病人没有发现肾钙质沉着症。我们的数据表明，与正常人群相比，Williams-Beuren综合征的肾脏和尿路结构异常的风险增加了12至36倍。肾脏系统的超声筛查应该是WBS患者的第一次评估的一部分。
Kidneys and urinary tract were examined systematically by ultrasonography in 130 patients with Williams-Beuren syndrome (59 females, median age 5.5 years; 71 males, median age 6.4 years). In addition, serum creatinine was determined and an analysis was performed. Creatinine clearance was available in 79 patients. Renal angiographic examinations were done in 18 patients, 8 of whom had renal artery narrowing (44%). The incidence of renal anomalies in Williams-Beuren syndrome was 17.7% vs. around 1.5% in the normal population (P < 0.0003). The spectrum of these anomalies ranged from minor anomalies such as bladder diverticula to more severe malformations such as renal aplasia or hypoplasia (in 5 of 130 patients). In nine patients a duplicated kidney was found. A decreased creatinine clearance (two patients), recurrent symptomatic urinary tract infections (four patients), and hypertension were uncommon. Nephrocalcinosis was not found in our patients. Our data demonstrate that the risk of a structural abnormality of the kidneys and the urinary tract is increased 12- to 36-fold in Williams-Beuren syndrome compared to the normal population. Ultrasound screening of the renal system should be part of the first evaluation of WBS patients.