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.%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.
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