De Mutiis Chiara, Pasini Andrea, La Scola Claudio, Pugliese Fabrizio, Montini Giovanni
Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi Bologna, Via Massarenti 11, 40138, Bologna, Italy.
Ital J Pediatr. 2015 Jun 25;41:46. doi: 10.1186/s13052-015-0152-4.
Dent disease is a rare X-linked tubulopathy with low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. We describe the case of a 9-year-old boy who presented with nephrotic-range albuminuria at the age of 3 years. In the absence of a clear diagnosis, a renal biopsy was performed at 4 years, which revealed minimal change disease. Due to the presence of low molecular weight proteinuria, even in the absence of hypercalciuria, a diagnosis of Dent disease was considered. While there were no mutations in the CLCN5 gene, the diagnosis was confirmed by the presence of a missense mutation (p.Arg318Cys) in the OCRL gene.
Given the large phenotypic variability of the disease and based on our experience, we believe that children with low molecular weight proteinuria, even without hypercalciuria, should be investigated for Dent disease.
丹特病是一种罕见的X连锁肾小管病，伴有低分子量蛋白尿、高钙尿症、肾结石、肾钙质沉着症和进行性肾衰竭。我们描述了一名9岁男孩的病例，他在3岁时出现肾病范围的蛋白尿。由于没有明确诊断，4岁时进行了肾活检，结果显示为微小病变肾病。由于存在低分子量蛋白尿，即使没有高钙尿症，也考虑诊断为丹特病。虽然CLCN5基因没有突变，但OCRL基因中存在错义突变（p.Arg318Cys）证实了诊断。
鉴于该疾病的表型差异很大，基于我们的经验，我们认为即使没有高钙尿症，低分子量蛋白尿的儿童也应进行丹特病的检查。
