钠-葡萄糖共转运蛋白2基因突变致原发性肾性糖尿一例并文献复习  

Sodium-glucose co-transporter 2 gene mutation causes primary renal glucosuria： case report and review of literature

作　　者：付红波 李楠[1] 裴育[1] 王先令[1] 杜锦[1] 巴建明[1] 吕朝晖[1] 窦京涛[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科,北京100853 [2]大庆市第四医院内分泌科

出　　处：《中华糖尿病杂志》2018年第2期150-153,共4页CHINESE JOURNAL OF DIABETES MELLITUS

基　　金：国家自然科学基金青年科学基金项目（81300717）

摘　　要：目的通过报道1例原发性肾性糖尿（PRG）并复习相关文献，提高临床医师对PRG的临床特征及分子致病机制的深入认识。方法收集1例PRG患者的临床资料、实验室检查、影像学检查及SLC5A2基因突变结果，并回顾性分析自1979年至今国内学者报道的肾性糖尿患者的资料，汇总我国已报道的SLC5A2基因突变型。结果患者实验室检查提示其糖代谢正常，分子诊断发现该患者的SLC5A2基因第8外显子发生了错义突变（c.917 G〉T，p.S306I）。复习国内文献报道的85例PRG患者，涉及17个家系及多个散发病例。其中男性52例，女性33例，发病年龄7-73岁（平均年龄34.03岁），大多数患者无任何症状，11例患者（占12.9%）有不同程度的＂口干、多饮、多尿、消瘦、乏力＂症状，3例以尿路感染起病。上述患者均符合肾性糖尿诊断标准，其空腹血糖波动于2.8-6.6 mmol/L，61例患者经口服葡萄糖耐量试验排除糖尿病，6例患者进行了为期4个月至15年的随访，均无明显并发症出现。结论PRG患者临床表现多为良性过程，基因分析有助于该病的病因诊断。Objective In order to improve physician＇s understanding of the clinical characteristics and molecular pathogenesis of this disease, we reported one case of primary renal glucosuria （PRG） and had literature reviewed.Methods Molecular genetic analysis of SLC5A2 gene was conducted in 1 patient with isolated glucosuria. Extensive laboratory test, physical and imaging examination were performed. We also analyzed of the clinical data of renal glucosuria reported in China since 1979 and summarized the SLC5A2 mutations in these Chinese patients with PRG.Results The test results of the patient indicated that glucose metabolism was normal. A novel missense mutation （c.917 G〉T, p.S306I） in exon 8 was detected. Review of literature reported in China, 85 cases of PRG were reported, involving 17 families and some sporadic cases. There were 52 males and 33 females with onset age from 7 to 73 years old （mean age 34.03 years）. Most patients had no symptoms, 11 patients （12.9%） had different degrees of dry mouth, polydipsia, polyuria, weight loss, fatigue, and 3 cases with urinary tract infection. All of these patients met the diagnostic criteria for PRG. Their fasting blood sugar fluctuated at 2.8-6.6 mmol/L, and 61 patients were excluded diabetes by glucose tolerance test. Six patients were followed up for 4 months to 15 years and no obvious complications occurred.Conclusion The clinical manifestations of PRG patients are mostly benign, and SLC5A2 gene analysis is helpful for the etiological diagnosis of the disease.

关 键 词：糖尿 肾性 基因 SLC5A2 钠-葡萄糖共转运蛋白2 

分 类 号：R587.1[医药卫生—内分泌]