Kubo Kaori, Aizawa Tomomi, Watanabe Shojiro, Tsugawa Koji, Tsuruga Kazushi, Ito Etsuro, Joh Kensuke, Tanaka Hiroshi
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
Department of School Health Science, Faculty of Education, Hirosaki University, Hirosaki, Japan.
Pediatr Int. 2016 Aug;58(8):747-9. doi: 10.1111/ped.12944. Epub 2016 Jun 21.
Focal glomerulosclerosis (FGS) is a histologic entity that causes significant proteinuria in children. Although its etiology varies, recent reports indicated that some young male patients with FGS had underlying Dent disease. We describe the case of a 14-year-old Japanese boy who presented with persistent non-nephrotic range proteinuria, hematuria, and renal insufficiency. The patient was initially diagnosed as having FGS associated with scattered tubulointerstitial fibrosis. Although he had neither nephrocalcinosis nor family history of renal disease including urolithiasis, increased excretion of urinary β2 microglobulin was noted. Genetic analysis for Dent disease indicated a mutation (c.726 + 1G > A) in Chloride Channel, Voltage-Sensitive 5 (CLCN5). Given a recent hypothesis that Dent disease may be underrecognized in children with FGS, a careful diagnostic evaluation for possible underlying Dent disease should be considered in young boys who present with persistent albuminuria associated with high-grade low-molecular-weight proteinuria.
局灶节段性肾小球硬化（FGS）是一种在儿童中导致大量蛋白尿的组织学实体。尽管其病因各异，但最近的报告表明，一些患有FGS的年轻男性患者存在潜在的丹特病。我们描述了一名14岁日本男孩的病例，他表现为持续性非肾病范围蛋白尿、血尿和肾功能不全。该患者最初被诊断为患有与散在的肾小管间质纤维化相关的FGS。尽管他既没有肾钙质沉着症，也没有包括尿路结石在内的肾脏疾病家族史，但尿β2微球蛋白排泄增加。丹特病的基因分析显示氯离子通道电压敏感5（CLCN5）存在突变（c.726 + 1G > A）。鉴于最近的一种假设，即丹特病在患有FGS的儿童中可能未被充分认识，对于出现与高度低分子量蛋白尿相关的持续性白蛋白尿的年轻男孩，应考虑对可能潜在的丹特病进行仔细的诊断评估。
