Biesecker L G, Laxova R, Friedman A
Department of Pediatrics, University of Wisconsin Hospital and Clinics, Madison.
Am J Med Genet. 1987 Sep;28(1):131-5. doi: 10.1002/ajmg.1320280119.
A 19-year-old patient with Williams syndrome and renal cystic dysplasia is presented. This young man has had gradual deterioration of renal function and recurrent, acute episodes of dehydration secondary to a concentrating defect. A review revealed several reports of renal dysfunction in patients with Williams syndrome, but this complication has not been sufficiently emphasized. We recommend that all patients with Williams syndrome undergo periodic ultrasound examination and renal function evaluation.
本文介绍了一名患有威廉姆斯综合征和肾囊性发育不良的19岁患者。这名年轻男性肾功能逐渐恶化，继发于浓缩功能缺陷，反复出现急性脱水发作。一项综述显示，有几篇关于威廉姆斯综合征患者肾功能障碍的报告，但这一并发症尚未得到充分重视。我们建议所有威廉姆斯综合征患者定期进行超声检查和肾功能评估。
