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Clin Kidney J. 2013 Oct;6(5):523-5. doi: 10.1093/ckj/sft100.

Hypouricaemia and hyperuricosuria in familial renal glucosuria.

Author information

1
Department of Medicine and Nephrology, Faculdade de Ciências Médicas , Universidade NOVA de Lisboa-Hospital de Curry Cabral , Lisboa , Portugal ; Department of Genetics, Faculdade de Ciências Médicas , Universidade NOVA de Lisboa , Lisboa , Portugal.
2
Department of Medicine and Nephrology, Faculdade de Ciências Médicas , Universidade NOVA de Lisboa-Hospital de Curry Cabral , Lisboa , Portugal.
3
Department of Nephrology , Hospitais Universitários de Coimbra , Coimbra , Portugal.

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.

KEYWORDS:

SGLT2; glucose; kidney; urate

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