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

• Autores principales: Huimei Huang (Autor), Xiantao Wu (Autor), Qing He (Autor), Xuqin Liang (Autor), Yi Ding (Autor), Zhijuan Li (Autor), Zhanping Ren (Autor), Ying Bao (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Materias: article
• Acceso en línea: 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...