Cargando…

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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Huimei, Wu, Xiantao, He, Qing, Liang, Xuqin, Ding, Yi, Li, Zhijuan, Ren, Zhanping, Bao, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9742408/
https://www.ncbi.nlm.nih.gov/pubmed/36518778
http://dx.doi.org/10.3389/fped.2022.996946