title: Hypouricaemia and hyperuricosuria in familial renal glucosuria.
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.
authors.affiliation: 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.
authors.forename: Inês
authors.initials: I
authors.lastname: Aires
authors.affiliation: Department of Medicine and Nephrology, Faculdade de Ciências Médicas , Universidade NOVA de Lisboa-Hospital de Curry Cabral , Lisboa , Portugal.
authors.forename: Ana Rita
authors.initials: AR
authors.lastname: Santos
authors.affiliation: Department of Nephrology , Hospitais Universitários de Coimbra , Coimbra , Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Pratas
authors.affiliation: Department of Medicine and Nephrology, Faculdade de Ciências Médicas , Universidade NOVA de Lisboa-Hospital de Curry Cabral , Lisboa , Portugal.
authors.forename: Fernando
authors.initials: F
authors.lastname: Nolasco
authors.affiliation: 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.
authors.forename: Joaquim
authors.initials: J
authors.lastname: Calado
keywords: SGLT2; glucose; kidney; urate