原发性肾性糖尿患儿1例并基因突变分析

A Case of Primary Renal Glycosuria in a Pediatric Patient with Genetic Mutation Analysis

摘要: 目的：探讨1例儿童原发性肾性糖尿病(PRG)的临床表现及基因突变特点。方法：回顾1例PRG患儿的临床表现、实验室及影像学检查、基因检测结果。结果：女性学龄期儿童。多次尿糖阳性，血糖正常。通过聚合酶链反应，采集患儿及其父母外周血DNA中的SLC5A2基因进行扩增、测序分析，以明确突变情况。结果显示，患儿SLC5A2基因cDNA序列的第1540位胞嘧啶C突变为胸腺嘧啶T (c.1540C > T)，造成所编码的氨基酸第514位由脯氨酸改变为丝氨酸(p.Pro514Ser)，其父为杂合突变。结论：对于反复尿糖阳性而血糖正常的儿童，应考虑PRG可能，可完善基因检测明确诊断。

Abstract: Objective: To explore the clinical features and genetic mutation profiles of a pediatric case with primary renal glucosuria (PRG). Methods: The clinical manifestations, laboratory and imaging tests, and genetic test results of a child with PRG were reviewed. Results: Female school-age child. Multiple positive urine glucose and normal blood glucose. The SLC5A2 gene in the peripheral blood DNA of the child and her parents was amplified, sequenced, and analyzed by polymerase chain reaction (PCR) to identify potential mutations. The results showed that cytosine C was mutated to thymine T (c.1540C > T) at position 1540 in the cDNA sequence of the SLC5A2 gene of the child, resulting in the change of amino acid encoded by amino acid 514 from proline to serine (p.Pro514Ser), and the child's father had a heterozygous mutation. Conclusion: Primary renal glucosuria (PRG) should be considered in children with recurrent positive urine glucose and normal blood glucose, and genetic testing can be improved to clarify the diagnosis.