目的　探讨Dent病Ⅰ型的诊断和治疗。方法　回顾分析4例Dent病Ⅰ型患儿的临床资料及相关基因 CLCN5、OCRL1外显子及附近调控区域的直接测序结果。结果　4例患儿均为男性，发病年龄1.5~4岁，确诊年龄3~10岁； 临床皆有蛋白尿表现，其中2例伴佝偻病症状。基因检测均发现CLCN5突变，分别为L263F、R104X、S244L及外显子9-13 缺失。S244L为Dent病Ⅰ型患者最为常见的突变，其余均为新发现突变位点。结论　Dent病Ⅰ型主要表现为低分子量蛋 白尿，高钙尿症。基因检测有助于早期明确诊断。

Objective　To explore the diagnosis and treatment of Dent disease I. Method　The clinical data of 4 children with Dent diseaseⅠand the direct sequencing results of Dent disease-related genes CLCN5, OCRL1 exons and nearby regulatory regions were retrospectively analyzed. Results　All the four children were male, the age at onset was 1.5~4 years and the age at diagnosis was 3~10 years. All of them had the clinical manifestations of proteinuria, among which 2 cases were accompanied by rickets symptoms. Gene detection showed that all of them had CLCN5 mutations, L263F, R104X, S244L and exon 9-13 deletion respectively. S244L is the most common mutation in patients with Dent disease I, and the rest are newly discovered mutation sites. Conclusion　Dent disease I is mainly manifested as low molecular weight proteinuria and hypercalciuria. Gene detection contributes to the early and clear diagnosis.