Hypouricaemia and hyperuricosuria in familial renal glucosuria
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 t...
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Veröffentlicht in: | Clinical kidney journal 2013-10, Vol.6 (5), p.523-525 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 2048-8505 2048-8513 |
DOI: | 10.1093/ckj/sft100 |