Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria

• Váldodahkkit: Huimei Huang (Dahkki), Xiantao Wu (Dahkki), Qing He (Dahkki), Xuqin Liang (Dahkki), Yi Ding (Dahkki), Zhijuan Li (Dahkki), Zhanping Ren (Dahkki), Ying Bao (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Familial renal glucosuria (FRG) is a rare genetic condition featured by isolated glucosuria without hyperglycemia or other kidney diseases. It is caused by pathogenic mutations of the SGLT2 (Sodium-Glucose Cotransporter 2) gene, whose protein product is responsible for reabsorbing the majority of gl...