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

• Egile Nagusiak: Huimei Huang (Egilea), Xiantao Wu (Egilea), Qing He (Egilea), Xuqin Liang (Egilea), Yi Ding (Egilea), Zhijuan Li (Egilea), Zhanping Ren (Egilea), Ying Bao (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...