目的　探讨肾性糖尿的临床特点及基因突变。方法　分析1例肾性糖尿患儿的临床资料及基因检测结果。结果 患儿，女， 2岁10个月。尿糖++++，24 小时尿糖22.4 g。父亲曾有尿糖阳性。提取患儿及父母外周血DNA，聚合酶链反应 扩增SLC5A2基因外显子及与内含子拼接区进行测序分析。结果显示，患儿存在剪接位点突变c.127-16C>A（纯合），其父 母均为杂合突变，ClinVar数据库将此变异归类为致病性变异。结论　患儿确诊为原发性肾性糖尿，SLC5A2基因突变是其 致病原因。

　Objective　To explore the clinical manifestation and gene mutation of primary renal glucosuria (PRG). Methods　The clinical data and gene detection results of a child with PRG were analyzed. Results　A girl aged 2 years and 10 mouths had glucose ++++ by urine dipstick analysis and 22.4 g of the 24 h urine glucose. Her father was urine glucose positive. Genome DNA was extracted from peripheral blood of the girl and her parents, SLC5A2 gene were amplified by PCR for sequencing, including exons and splicing areas. The results showed a homozygous point mutation (c.127-16C>A) in girl, and both of her patents had the same heterozygous mutation. This mutation had been classified to pathogenic mutations by ClinVar data base. Conclusions　The diagnosis of PRG is confirmed in this child and SLC5A2 gene mutation is the cause.