Rohfleisch A, Nseir G, Chehade H, Noverraz M Guidoux, Venetz J-P, Barbey F
Centre de transplantation d'organes, CHUV, Lausanne.
Rev Med Suisse. 2013 Mar 20;9(378):636-40.
The occurrence of glucosuria in the absence of hyperglycemia is distinctive for renal glucosuria. SGLT2 mutations provoke familial renal glucosuria characterized by persistent glucosuria in the absence of any other renal tubular dysfunction. Renal glucosuria associated with others proximal tubular dysfunctions points to Fanconi syndrome. This generalized dysfunction of proximal tubule needs to be treated and may progress regarding its aetiology to chronic renal failure. The development and study of models of Fanconi syndrome has recently contributed to a better knowledge of the mechanisms implicated in the tubular transport of glucose and low-molecular-weight-proteins. This article reviews these recent developments.
无高血糖情况下出现糖尿是肾性糖尿的特征。SGLT2突变引发家族性肾性糖尿，其特点是在无任何其他肾小管功能障碍的情况下持续出现糖尿。与其他近端肾小管功能障碍相关的肾性糖尿提示范科尼综合征。这种近端小管的广泛性功能障碍需要治疗，且就其病因而言可能进展为慢性肾衰竭。范科尼综合征模型的开发和研究最近有助于更好地了解与葡萄糖和低分子量蛋白质肾小管转运相关的机制。本文综述了这些最新进展。
