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ABSTRACT: Aims
To present the clinical features of two rare cases with hereditary renal glycosuria and diabetes, explore their responses to sodium-glucose cotransporter 2 (SGLT2) inhibitor, and summarize the reported solute carrier family 5 member 2 (SLC5A2) mutations and related phenotypes.Methods
Two patients were followed up for 6.5 and 3 years respectively. SLC5A2 and hepatocyte nuclear factor 1-alpha (HNF1A) gene were sequenced. We used the flash glucose monitoring system to evaluate the efficacy of SGLT2 inhibitor treatment. Then we retrieved all the literature and analyzed SLC5A2 gene mutations and the phenotypes.Results
During long-time follow up, the two patients had frequent unproportional renal glycosuria in the morning even when their fasting serum glucose was onl
SUBMITTER: Ren Q
PROVIDER: S-EPMC9060016 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature