Familial Renal Glucosuria Presenting as Paroxysmal Glucosuria and Hypercalciuria Due to a Novel Heterozygous Variant.

Unlabelled: Familial renal glucosuria (FRG) is a rare genetic disease characterised by isolated glucosuria in the absence of proximal tubular dysfunction. It usually occurs due to a mutation in the gene encoding the sodium-glucose cotransporter-2 (SGLT2), responsible for most of the renal glucose reabsorption. We report on a case of a patient presenting with paroxysmal glucosuria and hypercalciuria due to a novel heterozygous variant.