Hypouricaemia and hyperuricosuria in familial renal glucosuria

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Abstract

Familial renal glucosuria is a rare co-dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, the Na+-glucose cotransporter responsible for the reabsorption of the bulk of glucose in the proximal tubule. We report a case of FRG displaying both severe glucosuria and renal hypouricaemia. We hypothesize that glucosuria can disrupt urate reabsorption in the proximal tubule, directly causing hyperuricosuria. © 2013 © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com.
Original languageEnglish
Pages (from-to)523-525
Number of pages3
JournalClinical kidney journal
Volume6
Issue number5
DOIs
Publication statusPublished - 2013

Keywords

  • glucose
  • kidney
  • SGLT2
  • urate
  • creatinine
  • cystine
  • sodium glucose cotransporter 2
  • uric acid
  • adult
  • article
  • case report
  • creatinine blood level
  • disease severity
  • familial renal glucosuria
  • female
  • follow up
  • gene mutation
  • gestational age
  • glucose urine level
  • homozygosity
  • human
  • hyperuricosuria
  • hypouricemia
  • incidental finding
  • kidney proximal tubule
  • kidney tubule absorption
  • priority journal
  • renal diabetes
  • uric acid blood level
  • urinary excretion

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