PDF(Pubmed)
Abstract：
Dent disease is an X-linked recessive renal tubular disorder, which is mainly caused by mutations of the CLCN5 gene and OCRL gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis or nephrolithiasis, and progressive renal failure. Nephrotic syndrome is a glomerular disorder characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. In this study, we report two cases of Dent disease manifesting as nephrotic syndrome. Two patients were initially diagnosed with nephrotic syndrome due to edema, nephrotic range proteinuria, hypoalbuminemia, and hyperlipidemia, and responded to prednisone and tacrolimus therapy. Genetic testing revealed mutations in the OCRL and CLCN5 genes. They were eventually diagnosed with Dent disease. Nephrotic syndrome is a rare and insidious phenotype of Dent disease, and its pathogenesis is not fully understood. Patients with nephrotic syndrome are recommended to routinely undergo urinary protein classification and urinary calcium testing, especially those with frequently recurrent nephrotic syndrome and poor response to steroid and immunosuppressive therapy. To date, there is no effective drug treatment for Dent disease. About 30% to 80% of patients progress to end-stage renal disease at the age of 30-50.
摘要：
Dent病是一种X连锁隐性肾小管疾病,这主要是由CLCN5基因和OCRL基因突变引起的。它的特点是低分子量蛋白尿，高钙尿症,肾钙化病或肾结石，和进行性肾衰竭.肾病综合征是一种以大量蛋白尿为特征的肾小球疾病，低蛋白血症,水肿,和高脂血症。在这项研究中,我们报告了2例表现为肾病综合征的Dent病。两名患者最初因水肿被诊断为肾病综合征,肾病范围蛋白尿，低蛋白血症,和高脂血症，对强的松和他克莫司治疗有反应。基因检测显示OCRL和CLCN5基因突变。他们最终被诊断出患有Dent病。肾病综合征是Dent病的一种罕见且隐匿的表型，其发病机制尚不完全清楚。建议肾病综合征患者常规进行尿蛋白分型和尿钙检测,特别是那些经常复发的肾病综合征和对类固醇和免疫抑制治疗反应不佳的患者。迄今为止,目前尚无有效的药物治疗方法。约30%至80%的患者在30-50岁时发展为终末期肾病。
