Stathaki Maria, Papadopoulou Eleftheria, Koukouraki Sophia, Sifakis Stavros, Papadaki Emmanuela, Kalmanti Maria, Karkavitsas Nikolaos
Department of Nuclear Medicine, University Hospital of Heraklion, P.O. Box 1352, 71110 Heraklion Crete, Greece.
Hell J Nucl Med. 2011 May-Aug;14(2):160-2.
Renal and renovascular abnormalities constitute features of the Williams-Beuren syndrome (WBS), one multisystem genetic disorder in childhood, caused by a microdeletion of chromosome 7. We report a 12 years old boy who was diagnosed with WBS and had an ectopic pelvic hypoplastic left kidney, detected by ultrasonography and renal scintigraphy. Dystopic hypoplastic kidney is an infrequent finding in patients with WBS and our report showed the importance of a complete clinical and laboratory study of renal function in WBS.
肾脏和肾血管异常是威廉姆斯-贝伦综合征（WBS）的特征，WBS是一种儿童期多系统遗传性疾病，由7号染色体微缺失引起。我们报告了一名12岁男孩，他被诊断为WBS，通过超声检查和肾闪烁显像发现左侧盆腔异位发育不全肾。异位发育不全肾在WBS患者中并不常见，我们的报告显示了对WBS患者进行完整的临床和肾功能实验室研究的重要性。
