儿童原发性肾性糖尿1例临床及基因突变分析

发布时间：2018-03-05 13:21

本文选题：原发性肾性糖尿　切入点：SLCA基因　出处：《临床儿科杂志》2017年06期 　论文类型：期刊论文

【摘要】：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.127-16CA(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。
[Abstract]:Objective to investigate the clinical characteristics and gene mutation of renal glycosuria. Women were 2 years old and 10 months old. Urine sugar was 22.4 g in 24 hours urine sugar. The father had positive urine sugar. The peripheral blood DNAs of children and parents were extracted and sequenced by polymerase chain reaction (PCR) to amplify exons of SLC5A2 gene and splice with intron. The splicing site mutation c.127-16CAA (homozygote) was classified as pathogenicity variation by Clin Var database. Conclusion the mutation of SLC5A2 gene in children with primary renal glycosuria is the cause of the disease. [WT5HZ] [WT5BZ] [WT5BZ] [WT5 "BZ] [WT5" BZ] [WT5 "BZ]
【作者单位】：上海交通大学医学院附属上海儿童医学中心;
【基金】：国家自然科学基金资助项目(No.81370930,No.81371903,No.81472051)
【分类号】：R726.9

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