title: Renal glucosuria due to SGLT2 mutations.
abstract: Isolated renal glucosuria results from mutations in SGLT2, which codes for an active transporter specific for d-glucose and expressed in the luminal membrane of the renal proximal tubule. In affected individuals, glucosuria leads to pursuit of hyperglycemia to exclude defects in glucose metabolism, and to investigation of renal proximal tubular function to exclude renal Fanconi syndrome. Here we present clinical and molecular data regarding a 19-year-old woman with isolated glucosuria. She was compound heterozygous for two SGLT2 mutations, i.e., a new missense mutation, T200K, and a known missense mutation, N654S.
authors.affiliation: Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room 10C-107, MSC 1851, 10 Center Drive, Bethesda, MD 20892-1851, USA. kletar@mail.nih.gov
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.forename: Caroline
authors.initials: C
authors.lastname: Stuart
authors.forename: Fred A
authors.initials: FA
authors.lastname: Gill
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006030:Glycosuria, Renal / Q000235:genetics*; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D051297:Sodium-Glucose Transporter 2; D013577:Syndrome
chemical_list: D009004:Monosaccharide Transport Proteins; C089180:SLC5A2 protein, human; D051297:Sodium-Glucose Transporter 2