Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant
  • Robin Van Lerberghe
    Department of Internal Medicine, University Hospitals Leuven, Leuven, Belgium
  • Elien Mahieu
    Department of Nephrology, AZ Glorieux, Ronse, Belgium
  • Johan Vanuytsel
    Department of Nephrology, AZ Glorieux, Ronse, Belgium
  • Karen Vanhaute
    Department of Nephrology, AZ Glorieux, Ronse, Belgium
  • Celine Vanfraechem
    Department of Nephrology, AZ Glorieux, Ronse, Belgium
  • Laurens Claeys
    Department of Nephrology, AZ Glorieux, Ronse, Belgium

Keywords

Familial renal glucosuria, SLC5A2 variant

Abstract

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 SLC5A2 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 SLC5A2 heterozygous variant.

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    Published: 2023-11-20
    Issue: 2023: LATEST ONLINE (view)

    How to cite:
    1.
    Van Lerberghe R, Mahieu E, Vanuytsel J, Vanhaute K, Vanfraechem C, Claeys L. Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant. EJCRIM 2023;10 doi:10.12890/2023_004157.