Genetic and clinical characterization of familial renal glucosuria.

ABSTRACT:

Background

Familial renal glucosuria (FRG) is a hereditary disorder caused by variants in SLC5A2 encoding sodium-glucose cotransporter 2 (SGLT2). In this study, we aimed to characterize proximal tubule solute transport, glucagon secretion and the genotype-phenotype relationship in FRG patients.

Methods

We sequenced SLC5A2 and PDZK1IP1 in 21 FRG patients and measured the renal threshold of glucose (RT_G) in 15 patients. We built an open-source online calculator of RT_G, evaluated the proximal tubule transport of amino acid, uric acid and phosphate, and explored glucagon secretion after glucose ingestion in FRG patients.

Results

We identified 12 novel SLC5A2 variants (G484D, R564W, A212S, c.574+1G>C, W649*, S592Cfs*6, Q579

SUBMITTER: Xu L 

PROVIDER: S-EPMC10853784 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature