Dent病1型

Dent disease type 1

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.