title: Effect of kidney disease on glucose handling (including genetic defects).
abstract: Reabsorption of glucose in the proximal renal tubule involves the Na(+)-coupled glucose cotransporter (SGLT) and the facilitative glucose transport (GLUT) multigene glucose transport families. Mutations in SLC5A2, the SGLT2 coding gene, are responsible for familial renal glucosuria (FRG), a genetic disorder characterized by glucosuria in the absence of both hyperglycemia and generalized proximal tubular dysfunction. In this paper we focus on FRG and describe other inherited and acquired clinical conditions associated with glucosuria. In addition, a brief review on the regulation of renal glucose transport in diabetes is provided.
authors.affiliation: Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Lisbon, Portugal. jcalado.gene@fcm.unl.pt
authors.forename: Joaquim
authors.initials: J
authors.lastname: Calado
authors.forename: René
authors.initials: R
authors.lastname: Santer
authors.forename: José
authors.initials: J
authors.lastname: Rueff
mesh_terms: D000818:Animals; D056726:Genetic Association Studies; D006029:Glycosuria / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism*; D008286:Malabsorption Syndromes; D051379:Mice; D009004:Monosaccharide Transport Proteins / Q000235:genetics*
chemical_list: D009004:Monosaccharide Transport Proteins