Chen Qiaoping, Li Yongzhen, Wu Xiaochuan
Department of Pediatrics, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Intractable Rare Dis Res. 2023 Feb;12(1):67-70. doi: 10.5582/irdr.2022.01125.
Dent disease is an X-linked recessive renal tubular disorder, which is mainly caused by mutations of the gene and 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 and 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.
丹特病是一种X连锁隐性肾小管疾病，主要由基因和基因的突变引起。其特征为低分子量蛋白尿、高钙尿症、肾钙质沉着症或肾结石，以及进行性肾衰竭。肾病综合征是一种肾小球疾病，其特征为大量蛋白尿、低白蛋白血症、水肿和高脂血症。在本研究中，我们报告了两例表现为肾病综合征的丹特病病例。两名患者最初因水肿、肾病范围蛋白尿、低白蛋白血症和高脂血症被诊断为肾病综合征，并对泼尼松和他克莫司治疗有反应。基因检测显示基因和基因存在突变。他们最终被诊断为丹特病。肾病综合征是丹特病一种罕见且隐匿的表型，其发病机制尚未完全明确。建议肾病综合征患者常规进行尿蛋白分类和尿钙检测，尤其是那些肾病综合征频繁复发且对类固醇和免疫抑制治疗反应不佳的患者。迄今为止，丹特病尚无有效的药物治疗方法。约30%至80%的患者在30至50岁时进展为终末期肾病。
