DOI: 10.12890/2023_004157

Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant

Authors

  • 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

laurens.claeys@azglorieux.be

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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References

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Published

2023-11-20

Issue

Vol. 10 No. 12 (2023)

Categories

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 [Internet]. 2023 Nov. 20 [cited 2026 Nov. 3];10(12). Available from: https://ejcrim.com/index.php/ejcrim/article/view/4157

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