Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target

R Santer, J Calado - Clinical Journal of the American Society of …, 2010 - journals.lww.com
Four members of two glucose transporter families, SGLT1, SGLT2, GLUT1, and GLUT2, are
differentially expressed in the kidney, and three of them have been shown to be necessary
for normal glucose resorption from the glomerular filtrate. Mutations in SGLT1 are associated
with glucose-galactose malabsorption, SGLT2 with familial renal glucosuria (FRG), and
GLUT2 with Fanconi-Bickel syndrome. Patients with FRG have decreased renal tubular
resorption of glucose from the urine in the absence of hyperglycemia and any other signs of …