Renal Glucosuria Questions & Answers

1. Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M, et al. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol. 2003 Nov. 14(11):2873-82. [QxMD MEDLINE Link].

2. Calado J, Loeffler J, Sakallioglu O, Gok F, Lhotta K, Barata J, et al. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. Kidney Int. 2006 Mar. 69(5):852-5. [QxMD MEDLINE Link].

3. Calado J, Sznajer Y, Metzger D, Rita A, Hogan MC, Kattamis A, et al. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant. 2008 Dec. 23(12):3874-9. [QxMD MEDLINE Link].

4. Calado J, Soto K, Clemente C, Correia P, Rueff J. Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Hum Genet. 2004 Feb. 114(3):314-6. [QxMD MEDLINE Link].

5. De Marchi S, Cecchin E, Basile A, Proto G, Donadon W, Jengo A, et al. Close genetic linkage between HLA and renal glycosuria. Am J Nephrol. 1984. 4 (5):280-6. [QxMD MEDLINE Link].

6. Prié D. Familial renal glycosuria and modifications of glucose renal excretion. Diabetes Metab. 2014 Dec. 40(6 Suppl 1):S12-6. [QxMD MEDLINE Link].

7. Gerich JE. Role of the kidney in normal glucose homeostasis and in the hyperglycaemia of diabetes mellitus: therapeutic implications. Diabet Med. 2010 Feb. 27(2):136-42. [QxMD MEDLINE Link]. [Full Text].

8. Avner E, Harmon W, Niaudet P. Pediatric nephrology, 5th edn. 5th Ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2004.

9. Brown GK. Glucose transporters: structure, function and consequences of deficiency. J Inherit Metab Dis. 2000 May. 23(3):237-46. [QxMD MEDLINE Link].

10. DeFronzo RA, Davidson JA, Del Prato S. The role of the kidneys in glucose homeostasis: a new path towards normalizing glycaemia. Diabetes Obes Metab. 2012 Jan. 14(1):5-14. [QxMD MEDLINE Link].

11. Kewalramani LS, Orth MS, Taylor RG. Injuries to the cervical spine from diving accidents. J Trauma. 1975 Feb. 15 (2):130-42. [QxMD MEDLINE Link].

12. Santer R, Calado J. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. Clin J Am Soc Nephrol. 2010 Jan. 5 (1):133-41. [QxMD MEDLINE Link].

13. Calado J, Loeffler J, Sakallioglu O, Gok F, Lhotta K, Barata J. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. Kidney Int. 2006 Mar. 69(5):852-5. [QxMD MEDLINE Link].

14. Calado J, Sznajer Y, Metzger D, Rita A, Hogan MC, Kattamis A. Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant. 2008 Dec. 23(12):3874-9. [QxMD MEDLINE Link].

15. Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M, et al. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol. 2003 Nov. 14(11):2873-82. [QxMD MEDLINE Link].

16. Santer R, Calado J. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. Clin J Am Soc Nephrol. 2010 Jan. 5(1):133-41. [QxMD MEDLINE Link].

17. Yu L, Lv JC, Zhou XJ, Zhu L, Hou P, Zhang H. Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. Hum Genet. 2011 Mar. 129(3):335-44. [QxMD MEDLINE Link].

18. Quamme GA, Freeman HJ. Evidence for a high-affinity sodium-dependent D-glucose transport system in the kidney. Am J Physiol. 1987 Jul. 253(1 Pt 2):F151-7. [QxMD MEDLINE Link].

19. Santer R, Kinner M, Lassen CL, et al. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol. 2003 Nov. 14(11):2873-82. [QxMD MEDLINE Link]. [Full Text].

20. Freitas HS, D'Agord Schaan B, da Silva RS, Okamoto MM, Oliveira-Souza M, Machado UF. Insulin but not phlorizin treatment induces a transient increase in GLUT2 gene expression in the kidney of diabetic rats. Nephron Physiol. 2007. 105(3):p42-51. [QxMD MEDLINE Link].

21. CROMBIE DL. Incidence of glycosuria and diabetes. Proc R Soc Med. 1962 Mar. 55:205-7. [QxMD MEDLINE Link].

22. Santer R, Calado J. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. Clin J Am Soc Nephrol. 2010 Jan. 5 (1):133-41. [QxMD MEDLINE Link].

23. Urakami T, Yoda M, Yoshida K, Mine Y, Aoki M, Suzuki J. Renal glucosuria in schoolchildren: Clinical characteristics. Pediatr Int. 2018 Jan. 60 (1):35-40. [QxMD MEDLINE Link].

24. Scholl-Bürgi S, Santer R, Ehrich JH. Long-term outcome of renal glucosuria type 0: the original patient and his natural history. Nephrol Dial Transplant. 2004 Sep. 19 (9):2394-6. [QxMD MEDLINE Link].

25. Magen D, Sprecher E, Zelikovic I, Skorecki K. A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessiverenal glucosuria and aminoaciduria. Kidney Int. 2005 Jan. 67(1):34-41. [QxMD MEDLINE Link].

26. Kleta R, Stuart C, Gill FA, Gahl WA. Renal glucosuria due to SGLT2 mutations. Mol Genet Metab. 2004 May. 82(1):56-8. [QxMD MEDLINE Link].

27. Oemar BS, Byrd DJ, Brodehl J. Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0). Clin Nephrol. 1987 Mar. 27(3):156-60. [QxMD MEDLINE Link].

28. De Paoli P, Battistin S, Jus A, Reitano M, Villalta D, De Marchi S. Immunological characterization of renal glycosuria patients. Clin Exp Immunol. 1984 May. 56(2):289-94. [QxMD MEDLINE Link].

29. Gotzsche O. Renal glucosuria and aminoaciduria. Acta Med Scand. 1977. 202(1-2):65-7. [QxMD MEDLINE Link].

30. Sankarasubbaiyan S, Cooper C, Heilig CW. Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. Am J Kidney Dis. 2001 May. 37(5):1039-43. [QxMD MEDLINE Link].

31. Bingham C, Ellard S, Nicholls AJ, Pennock CA, Allen J, James AJ. The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes. 2001 Sep. 50(9):2047-52. [QxMD MEDLINE Link].

32. Santer R, Kinner M, Lassen CL, Schneppenheim R, Eggert P, Bald M. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol. 2003 Nov. 14(11):2873-82. [QxMD MEDLINE Link].

33. Yu L, Lv JC, Zhou XJ, Zhu L, Hou P, Zhang H. Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. Hum Genet. 2011 Mar. 129(3):335-44. [QxMD MEDLINE Link].

34. Santer R, Calado J. Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. Clin J Am Soc Nephrol. 2010 Jan. 5(1):133-41. [QxMD MEDLINE Link].

35. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature. 1991 Mar 28. 350(6316):354-6. [QxMD MEDLINE Link].

36. De Paoli P, Battistin S, Jus A, Reitano M, Villalta D, De Marchi S, et al. Immunological characterization of renal glycosuria patients. Clin Exp Immunol. 1984 May. 56 (2):289-94. [QxMD MEDLINE Link].

37. De Marchi S, Cecchin E, Basile A, Proto G, Donadon W, Schinella D, et al. Is renal glycosuria a benign condition?. Proc Eur Dial Transplant Assoc. 1983. 20:681-5. [QxMD MEDLINE Link].

38. Schneider D, Gauthier B, Trachtman H. Hypercalciuria in children with renal glycosuria: evidence of dual renal tubular reabsorptive defects. J Pediatr. 1992 Nov. 121 (5 Pt 1):715-9. [QxMD MEDLINE Link].

39. Gotzsche O. Renal glucosuria and aminoaciduria. Acta Med Scand. 1977. 202 (1-2):65-7. [QxMD MEDLINE Link].

40. Sankarasubbaiyan S, Cooper C, Heilig CW. Identification of a novel form of renal glucosuria with overexcretion of arginine, carnosine, and taurine. Am J Kidney Dis. 2001 May. 37 (5):1039-43. [QxMD MEDLINE Link].

41. Yu L, Hou P, Lv JC, Liu GP, Zhang H. A novel sodium-glucose co-transporter 2 gene (SGLT2) mutation contributes to the abnormal expression of SGLT2 in renal tissues in familial renal glucosuria. Int Urol Nephrol. 2014 Nov. 46(11):2237-8. [QxMD MEDLINE Link].

42. Angelopoulos TP, Doupis J. Sodium-Glucose linked transporter 2 (SGLT2) inhibitors--fighting diabetes from a new perspective. Adv Ther. 2014 Jun. 31(6):579-91. [QxMD MEDLINE Link].

43. Andrianesis V, Doupis J. The role of kidney in glucose homeostasis--SGLT2 inhibitors, a new approach in diabetes treatment. Expert Rev Clin Pharmacol. 2013 Sep. 6(5):519-39. [QxMD MEDLINE Link].

44. Boldys A, Okopien B. Inhibitors of type 2 sodium glucose co-transporters--a new strategy for diabetes treatment. Pharmacol Rep. 2009 Sep-Oct. 61(5):778-84. [QxMD MEDLINE Link].

45. Wilding JP, Norwood P, T'joen C, Bastien A, List JF, Fiedorek FT. A study of dapagliflozin in patients with type 2 diabetes receiving high doses of insulin plus insulin sensitizers: applicability of a novel insulin-independent treatment. Diabetes Care. 2009 Sep. 32(9):1656-62. [QxMD MEDLINE Link]. [Full Text].

46. Diez-Sampedro A, Hirayama BA, Osswald C, Gorboulev V, Baumgarten K, Volk C. A glucose sensor hiding in a family of transporters. Proc Natl Acad Sci U S A. 2003 Sep 30. 100(20):11753-8. [QxMD MEDLINE Link].

47. Ganapathy V, Thangaraju M, Gopal E, Martin PM, Itagaki S, Miyauchi S, et al. Sodium-coupled monocarboxylate transporters in normal tissue and in cancer. AAPS J. 2008. 10:193-199.

48. Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet. 2008 Mar. 82(3):772-9. [QxMD MEDLINE Link].

49. Zhao X, Cui L, Lang U, Liu T, Lu J, Wang C, et al. A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familia renal glucosuria. Sci Rep. 2016. 6:33920.

50. Yu L, Xu Q, Hou P, Zhang H. Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. Hum Mutat. 2015. 36:79-86.

51. Ottosson-Laakso E, Tuomi T, Forsén B, Gullström M, Groop PH, Groop L, et al. Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time. PLoS One. 2016. 11 (1):e0146114. [QxMD MEDLINE Link].

Rajendra Bhimma, MBChB, MD, PhD, DCH (SA), FCP(Paeds)(SA), MMed(Natal) Associate Professor of Pediatrics, Principal Specialist, Department of Pediatrics and Child Health, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, South Africa

Rajendra Bhimma, MBChB, MD, PhD, DCH (SA), FCP(Paeds)(SA), MMed(Natal) is a member of the following medical societies: African Association of Nephrology, American Association for the Advancement of Science, International Pediatric Nephrology Association, International Society of Nephrology, National Kidney Foundation, South African Medical Association, South African Paediatric Association, South African Renal Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luther Travis, MD Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, Texas Pediatric Society

Disclosure: Nothing to disclose.

Craig B Langman, MD Tenured Professor of Pediatrics, The First Isaac A Abt, MD, Professor of Kidney Diseases (Emeritus), Northwestern University, The Feinberg School of Medicine; Staff Nephrologist, The Ann and Robert H Lurie Children’s Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Clinical Research, American Society for Bone and Mineral Research, American Society of Nephrology, American Society of Pediatric Nephrology, Association of Clinical Scientists, Cochrane Collaboration, International Bone and Mineral Society, International Conferences on Calcium Regulating Hormones, International Pediatric Nephrology Association, International Society of Nephrology, International Society of Renal Nutrition and Metabolism, Midwest Society for Pediatric Research, Pediatric Academic Societies, ROCK (Research on Calculus Kinetics) Society, Society for Pediatric Research

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Horizon Pharmaceuticals); ; Dicerna Pharmaceuticals<br/>Incyte Pharmaceuticals; Eli Lilly for: Federation bio; Dicerna pharmaceuticals.

Laurence Finberg, MD Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Leonard G Feld, MD, PhD, to the development and writing of this article.

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