肾性糖尿的诊疗现状  

Diagnosis and treatment of renal glucosuria

作　　者：余自华[1] 陈丽珠[1] Yu Zihua;Chen Lizhu(Department of Pediatrics,Fuzhou General Hospital of Nanjing Military Command,the People＇s Liberation Army,Fuzhou 350025,China)

机构地区：[1]南京军区福州总医院儿科,福州350025

出　　处：《中华实用儿科临床杂志》2018年第17期1286-1289,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：肾性糖尿（RG）是因近端肾小管对葡萄糖的重吸收障碍引起的遗传病，由SLC5A2基因突变所致。SLC5A2基因突变导致其编码蛋白钠-葡萄糖转运体2（SGLT2）缺陷，引起近端肾小管S1段重吸收原尿中葡萄糖减少，致终尿中葡萄糖增多，表现为尿葡萄糖阳性。RG的主要临床特点是尿糖阳性，尿糖成分是葡萄糖，而血糖水平正常；其遗传方式呈不完全外显的常染色体共显性遗传。RG的诊断依据：持续且相对稳定的尿糖（10-100g／d）；尿糖成分为葡萄糖；空腹血浆血糖水平和口服葡萄糖耐量试验正常；碳水化合物储存和利用正常，饮食中无明显碳水化合物不足。RG一般无需特殊治疗，但需适当增加碳水化合物的摄入量，且运动和锻炼不可过度。Renal glycosuria （RG） is an inherited disorder due to defective reabsorption of glucose by the proximal renal tubular. It is attributed to the mutations in the SCL5A2 gene,encoding the sodium -glucose transporter 2 （ SGLT2 ）. A defect of SGLT2 is responsible for impaired reabsorption of the filtered glucose in the proximal renal tubular,termed S1 ,which leads to glycosuria. RG is characterized by normal fasting serum glucose concentration and persistent isolated glueosuria, identification of glucose as the urinary sugar. The inherited pattern of RG is co - dominant in-heritance trait with incomplete penetrance. The diagnostic criteria of glycosurias are as follows ： a constant and relatively stable urinary glycosurias （10 -100 g/d） ,identification of glucose as the urinary sugar, normal concentration of fasting plasma glucose and normal oral glucose tolerance test, evidence that individuals have normal carbohydrates intake, storage and metabolism. RG does not require special treatment generally, but the advice concerns diet with increasing the intake of carbohydrates. Physical activity should be moderate and professional, and excesive muscle and exercise should be not advisable.

关 键 词：肾性糖尿 先天性肾小管转运障碍 葡萄糖重吸收 SLCSA2基因 钠-葡萄糖转运体2 

分 类 号：R726.9[医药卫生—儿科]