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Nephrology Dialysis Transplantation 2004 19(11):2893-2895; doi:10.1093/ndt/gfh426
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Nephrol Dial Transplant Vol. 19 No. 11 © ERA-EDTA 2004; all rights reserved

Case Report

A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria

Jean Francis1, Junhui Zhang2, Anita Farhi3, Hugh Carey1 and David S. Geller2

1 Department of Internal Medicine, Hospital of St. Raphael, and 2 Section of Nephrology and 3 Department of Genetics, Yale University School of Medicine, CT, USA

Correspondence and offprint requests to: David S. Geller, CAB S369, 1 Gilbert Street, Section of Nephrology, Yale University School of Medicine, New Haven, CT 06510, USA. Email: david.geller@yale.edu

Keywords: glucosuria; SGLT2

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   Introduction
 
The kidney plays a central role in the regulation of plasma glucose levels. Glucose is freely filtered at the glomerulus and is normally reabsorbed via specific apical glucose transporters. In recent years, the identity of these transporters has been established. The sodium–glucose co-transporter type 2 (SGLT2) is a 672 amino acid high-capacity low-affinity transporter expressed in the S1 segment of the proximal tubule which is believed to mediate the majority of renal glucose reabsorption. The type 1 sodium–glucose co-transporter SGLT1, primarily expressed in the S3 segment of the proximal tubule and the small intestine, is a high-affinity, low-capacity glucose transporter saturated at or near physiological glucose concentrations [1]. SGLT1 has a 10-fold greater affinity for galactose and its deficiency is responsible for glucose–galactose malabsorption [2. . . [Full Text of this Article]



   Case
 


   Discussion
 

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