摘要
本文报道1例表现为大量蛋白尿的Dent病患儿诊疗过程。患儿男性,3岁1个月,常规体检时发现有大量蛋白尿,无低白蛋白血症,尿蛋白电泳提示以小分子量蛋白为主,同时伴高钙尿症,有阴离子间隙正常的代谢性酸中毒,无糖尿,无氨基酸尿,肾脏超声未见肾脏钙质沉着。患儿无生长发育落后及肾脏疾病家族史。完善全外显子组基因检测到OCRL1基因第15号外显子存在1处错义变异c.1477C>T(p.Arg493Trp)。诊断Dent病明确后,限制高钙、高钠及高草酸盐饮食摄入,同时加用枸橼酸钾颗粒及氢氯噻嗪口服。目前随访2个月,尿钙水平下降,肾功能稳定。本文通过典型病例报道及既往文献回顾,以期提高临床医师对该疾病的认识,并为该疾病的诊治提供借鉴。
This article reported the diagnosis and treatment of a boy with Dent disease presenting with massive proteinuria.He was 3 years old and found to have massive proteinuria during routine physical examina-tion without hypoalbuminemia,urine protein electrophoresis indicated mainly low molecular weight proteins,with hypercalciuria,and metabolic acidosis,no diabetes,no amino acid urine,and renal ultrasound showed no renal calcium deposition,He had no mental and physical developmental delay and no abnormal family histo-ry.Gene detection revealed one missense mutation in exon 15 of the OCRL1 gene,c 1477C>T(p Arg493Trp).After the diagnosis was confirmed,restrictions in dietary intake of calcium,sodium,and ox-alate was restricted and oral potassium citrate and hydrochlorothiazide was prescribed.During two months of fol-low-up,we observed a decrease in urinary calcium levels and normal renal function.This article aims to im-prove the understanding of this disease among physicians and provide reference for the diagnosis and treatment of this disease through typical case report and review of previous literatures.
作者
李华荣
陈朝英
涂娟
万灵
LI Huarong;CHEN Chaoying;TU Juan;WAN Ling(Department of Nephrology,Chidren′s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China)
出处
《罕见病研究》
2024年第1期114-117,共4页
Journal of Rare Diseases
关键词
低分子量蛋白尿
高钙尿症
Dent病
基因
罕见病
low molecular weight proteinuria
hypercalcemia
Dent disease
gene
rare diseases
