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: [email protected].
Original language | English |
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Pages (from-to) | 523-525 |
Number of pages | 3 |
Journal | Clinical kidney journal |
Volume | 6 |
Issue number | 5 |
DOIs | |
Publication status | Published - 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