Dent病1型  

Dent disease type 1

作　　者：焦晨峰 赵丽丽 程震 JIAO Chenfeng;ZHAO Lili;CHENG Zhen(National Clinical Research Center of Kidney Diseases,Jinling Hospital,Nanjing University School of Medicine,Nanjing 210016,China)

机构地区：[1]东部战区总医院国家肾脏疾病临床医学研究中心全军肾脏病研究所,南京210016

出　　处：《肾脏病与透析肾移植杂志》2021年第2期194-198,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

摘　　要：12岁男性,病程4年,临床表现为低分子蛋白尿,无镜下血尿,血压及肾功能正常,近端肾小管损伤(低尿酸、尿糖阳性),尿钙排泄增高,肾脏B超提示双肾结晶.肾穿刺活检示肾小管间质病变,二代测序技术提示CLCN5基因插入突变(c.2146_2147insAC),该插入突变导致移码突变,患儿为半合子突变.最终诊断为Dent病1型.A 12-year-old male with 4-year course presented with low molecular weight proteinuria,no microscopic hematuria,normal blood pressure and renal function,proximal renal tubule injury(hypouricemia glucoseuria,positive urine-glucose),hypercalciuria.Renal ultrasound revealed bilateral kidney crystal.Renal biopsy showed tubulointerstitial lesions.Next-generation sequencing(NGS)revealed an insertion mutation(c.2146_2147insAC)in the CLCN5 gene,which resulted in a frame shift mutation.The child had a semi-zygotic mutation.The final diagnosis was Dent disease type 1.

关 键 词：Dent病1型 遗传性肾小管疾病 CLCN5基因 X连锁隐性遗传 

分 类 号：R726.9[医药卫生—儿科]