目的 探讨Dent病的早期诊断、治疗及预后。方法 回顾性分析2013年1月至2015年12月确诊的6例Dent 病患儿的临床资料。结果 6例患儿均为男性，年龄3～10岁，均无氨基酸尿、尿糖、低钾，均有肾钙质沉着， 2例有蛋白 尿家族史， 1例伴有镜下血尿， 1例肾脏病理为局灶节段性肾小球硬化（FSGS），1例伴有佝偻病及肾功能不全； 2例行基 因检测示基因突变位点分别为c.731C>T(p.Ser244Leu)和c.848C>T(p.Pro283Leu)；随访过程中6例患儿肾功能稳定。结 论 Dent病的典型症状为小分子蛋白尿、高钙尿，肾脏钙化等，基因诊断有助于早期确诊，早期诊断及治疗可改善预后。

Objective To explore the early diagnosis, treatment and prognosis of Dent disease. Method The clinical data of 6 children with Dent disease were retrospectively analyzed from January 2013 to December 2015. Results in 6 male chilren aged 3-10 years old, all of the children didn't have amino acid urine, urine glucose, or low potassium, while suffered with nephrocalcinosis. Two children had family history of proteinuria, one case was combined with microscopic hematuria, one showed glomerular focal segmental sclerosis (FSGS) in renal pathology, and one case accompanied with rickets and renal insufficiency. Two children were performed the gene detection and it showed the gene mutation site at c.731C>T (p.Ser244Leu) and c.848C>T(p.Pro283Leu) respectively. During the follow-up, the renal function was stable among all of the children. Conclusions The classical symptoms of Dent disease were low molecular weight proteinuria, hypercalcinuria, renal calcification, and so on. Gene detection is helpful in early diagnosis. Early diagnosis and treatment can improve the prognosis.