儿童原发性肾性糖尿1例临床及基因突变分析

The clinical manifestation and gene mutation of primary renal glucosuria in a child

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,Clin Var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。

ObjectiveTo explore the clinical manifestation and gene mutation of primary renal glucosuria （PRG）. MethodsThe clinical data and gene detection results of a child with PRG were analyzed. ResultsA 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 amplifed 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 classifed to pathogenic mutations by ClinVar data base. ConclusionsThe diagnosis of PRG is confrmed in this child and SLC5A2 gene mutation is the cause.