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Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria
Abstract
ABSTRACT.: The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice mutation was found in 5 families of different ethnic backgrounds, and a 12-bp deletion was found in two German families. Fourteen individuals (including the original patient with ’renal glucosuria type 0′) were homozygous or compound heterozygous for an SGLT2 mutation resulting in glucosuria in the range of 14.6 to 202 g/1.73 m 2/d (81 - 1120 mmol/1.73 m 2/d). Some, but not all, of their heterozygous family members had an increased glucose excretion of up to 4.4 g/1.73 m 2/d (24 mmol/1.73 m 2/d). Likewise, in index cases with glucosuria below 10 g/1.73 m 2/d (55 mmol/1.73 m 2/d) an SGLT2 mutation, if present, was always detected in the heterozygous state. We conclude that SGLT2 plays an important role in renal tubular glucose reabsorption. Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance. E-mail: r.santer@uke.uni-hamburg.de
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Genetics of diabetes mellitus and diabetes complications
Cole, J. B., & Florez, J. C. (2020) · Nature Reviews Nephrology · doi:10.1038/s41581-020-0278-5 · Cited by 1,797
Biology of Human Sodium Glucose Transporters
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Sodium-Glucose Cotransport Inhibition With Dapagliflozin in Type 2 Diabetes
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Active sugar transport in health and disease
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Mechanisms of Cardiorenal Effects of Sodium-Glucose Cotransporter 2 Inhibitors
Zelniker, T. A., & Braunwald, E. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.11.031 · Cited by 566
Metadata
- Authors
- Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M., Li Volti, S., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J., & Klaerke, D.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2003-11
- Volume
- 14
- Issue
- 11
- Pages
- 2873-2882
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2103196856
- Cited by
- 305
- References
- 32
- FWCI
- 1.72
- Type
- journal article
- Language
- en
- Open access
- closed
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- Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M., Li Volti, S., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J., & Klaerke, D. (2003). Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria. Journal of the American Society of Nephrology. https://doi.org/10.1097/01.asn.0000092790.89332.d2
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