Effect of kidney disease on glucose handling (including genetic defects)

Kidney International

Volumn 79, Issue SUPPL. 120, 2011, Pages

  Calado, Joaquim ^a,b   Santer, René ^c   Rueff, José ^a  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^b HOSPITAL CURRY CABRAL   (Portugal)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

familial renal glucosuria; glucose transport; SGLT2; SLC5A2

Indexed keywords

COMPLEMENTARY DNA; GLUCOSE; GLUCOSE TRANSPORTER 2; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; INSULIN; PHLORIZIN; SODIUM GLUCOSE COTRANSPORTER 2;

CLCN5 GENE; DENT DISEASE; DIABETES MELLITUS; EXON; FAMILIAL RENAL GLUCOSURIA; FANCONI BICKEL SYNDROME; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; GENOTYPE; GLUCOSE ABSORPTION; GLUCOSE GALACTOSE MALABSORPTION; GLUCOSE HOMEOSTASIS; GLUCOSE INTOLERANCE; GLUCOSE TRANSPORT; GLUCOSURIA; GLUT2 GENE; HAPLOIDY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MOLECULAR GENETICS; MONOCARBOXYLATE TRANSPORTER SLC16A12 DEFICIENCY; NONHUMAN; OCRL1 GENE; ORAL GLUCOSE TOLERANCE TEST; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RENAL DIABETES; REVIEW; SLC16A12 GENE; SLC5A1 GENE; SLC5A2 GENE; TETANOSPASMIN; TETANUS;

EID: 79952208983     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2010.510     Document Type: Review

References (57)

1. Bonnardeaux A, Bichet DG. Chapter 40: Inherited Disorders of the Renal Tubule. In: Brenner BM, Rector FC (eds). Brenner & Rector's the kidney, 8th edn Saunders Elsevier: Philadelphia, 2008, pp 1390-1427.
2. Hjärne U. A study of orthoglycaemic glycosuria with particular reference to its hereditability. Acta Med Scand 1927; 67: 422-571.
3. Crombie DL. Incidence of glycosuria and diabetes. Proc R Soc Med 1962; 55: 205-207.
4. Marble A. The diagnosis of the less common melliurias. Med Clin N Am 1947; 31: 313.
5. Reubi FC. Glucose titration in renal glycosuria. In: Lewis AAG, Wolstenholme GEW (eds). Ciba Foundation Symposium-The Kidney. Churchill: London, 2008, pp 96-113.
6. Brodehl J, Oemar BS, Hoyer PF. Renal glucosuria. Pediatr Nephrol 1987; 1: 502-508. (Pubitemid 18016652)
7. Oemar BS, Byrd DJ, Brodehl J. Complete absence of tubular glucose reabsorption: a new type of renal glucosuria (type 0). Clin Nephrol 1987; 27: 156-160. (Pubitemid 17032835)
8. Khachadurian AK, Khachadurian LA. The inheritance of renal glycosuria. Am J Hum Genet 1964; 16: 189-194.
9. Elsas LJ, Rosenberg LE. Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine. J Clin Invest 1969; 48: 1845-1854.
10. Wells RG, Pajor AM, Kanai Y et al. Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter. Am J Physiol 1992; 263: F459-F465.
11. Kanai Y, Lee WS, You G et al. The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose. J Clin Invest 1994; 93: 397-404.
12. Wells RG, Mohandas TK, Hediger MA. Localization of the Na+/glucose cotransporter gene SGLT2 to human chromosome 16 close to the centromere. Genomics 1993; 17: 787-789. (Pubitemid 23282846)
13. Santer R, Kinner M, Schneppenheim R. The molecular basis of renal glucosuria: mutations in the gene for a renal glucose transporter (SGLT2) [abstract]. J Inherit Metab Dis 2000; 23: 178.
14. Santer R, Kinner M, Lassen CL et al. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol 2003; 14: 2873-2882. (Pubitemid 37305650)
15. Calado J, Loeffler J, Sakallioglu O et al. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting. Kidney Int 2006; 69: 852-855.
16. Calado J, Sznajer Y, Metzger D 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; 23: 3874-3879.
17. van den Heuvel LP, Assink K, Willemsen M et al. Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). Hum Genet 2002; 111: 544-547. (Pubitemid 36075086)
18. Calado J, Soto K, Clemente C et al. Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Hum Genet 2004; 114: 314-316. (Pubitemid 38208311)
19. Francis J, Zhang J, Farhi A et al. A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria. Nephrol Dial Transplant 2004; 19: 2893-2895. (Pubitemid 39480990)
20. Kleta R, Stuart C, Gill FA et al. Renal glucosuria due to SGLT2 mutations. Mol Genet Metab 2004; 82: 56-58. (Pubitemid 38521129)
21. Magen D, Sprecher E, Zelikovic I et al. A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. Kidney Int 2005; 67: 34-41. (Pubitemid 40019223)
22. Wright EM, Hirayama BA, Loo DF. Active sugar transport in health and disease. J Intern Med 2007; 261: 32-43. (Pubitemid 46046470)
23. De Marchi S, Cecchin E, Basile A et al. Close genetic linkage between HLA and renal glycosuria. Am J Nephrol 1984; 4: 280-286. (Pubitemid 14030545)
24. Komoroski B, Vachharajani N, Feng Y et al. Dapagliflozin, a novel, selective SGLT2 inhibitor, improved glycemic control over 2 weeks in patients with type 2 diabetes mellitus. Clin Pharmacol Ther 2009; 85: 513-519.
25. List JF, Woo V, Morales E et al. Sodium-glucose cotransport inhibition with dapagliflozin in type 2 diabetes. Diabetes Care 2009; 32: 650-657.
26. Vallon V, Platt KA, Cunard R et al. SGLT2 mediates glucose reabsorption in the early proximal Tubule. J Am Soc Nephrol 2010; 22: 104-112.
27. Scholl-Burgi S, Santer R, Ehrich JH. Long-term outcome of renal glucosuria type 0: the original patient and his natural history. Nephrol Dial Transplant 2004; 19: 2394-2396. (Pubitemid 39214139)
28. Gotzsche O. Renal glucosuria and aminoaciduria. Acta Med Scand 1977; 202: 65-67. (Pubitemid 8142340)
29. 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; 37: 1039-1043. (Pubitemid 32436577)
30. Bingham C, Ellard S, Nicholls AJ et al. 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; 50: 2047-2052. (Pubitemid 33643671)
31. Schneider D, Gauthier B, Trachtman H. Hypercalciuria in children with renal glycosuria: evidence of dual renal tubular reabsorptive defects. J Pediatr 1992; 121: 715-719.
32. Santer R, Schneppenheim R, Dombrowski A et al. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 1997; 17: 324-326. (Pubitemid 27475997)
33. Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome-a congenital defect of facilitative glucose transport. Curr Mol Med 2002; 2: 213-227. (Pubitemid 34649842)
34. Martin MG, Turk E, Lostao MP et al. Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 1996; 12: 216-220. (Pubitemid 26051306)
35. Wright EM, Turk E, Martin MG. Molecular basis for glucose-galactose malabsorption. Cell Biochem Biophys 2002; 36: 115-121. (Pubitemid 41270716)
36. Wrong OM, Norden AG, Feest TG. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 1994; 87: 473-493. (Pubitemid 24243467)
37. Lloyd SE, Pearce SH, Fisher SE et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996; 379: 445-449. (Pubitemid 26039523)
38. Hoopes Jr RR, Shrimpton AE, Knohl SJ et al. Dent's disease with mutations in OCRL1. Am J Hum Genet 2005; 76: 260-267.
39. Plans V, Rickheit G, Jentsch TJ. Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules. Pflugers Arch 2009; 458: 23-37.
40. Souza-Menezes J, Morales MM, Tukaye DN et al. Absence of ClC5 in knockout mice leads to glycosuria, impaired renal glucose handling and low proximal tubule GLUT2 protein expression. Cell Physiol Biochem 2007; 20: 455-464. (Pubitemid 47340606)
41. Kloeckener-Gruissem B, Vandekerckhove K, Nurnberg G et al. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet 2008; 82: 772-779.
42. Chen WW, Sese L, Tantakasen P et al. Pregnancy associated with renal glucosuria. Obstet Gynecol 1976; 47: 37-40.
43. Rezaian GR, Khajehdehi P, Beheshti S. Transient renal glucosuria in patients with tetanus. Nephron 1998; 80: 292-295.
44. Lee YJ, Han HJ. Regulatory mechanisms of Na(+)/glucose cotransporters in renal proximal tubule cells. Kidney Int Suppl 2007; 72: S27-S35. (Pubitemid 47172558)
45. Mogensen CE. Maximum tubular reabsorption capacity for glucose and renal hemodynamcis during rapid hypertonic glucose infusion in normal and diabetic subjects. Scand J Clin Lab Invest 1971; 28: 101-109.
46. Chin E, Zamah AM, Landau D et al. Changes in facilitative glucose transporter messenger ribonucleic acid levels in the diabetic rat kidney. Endocrinology 1997; 138: 1267-1275. (Pubitemid 27089786)
47. Kamran M, Peterson RG, Dominguez JH. Overexpression of GLUT2 gene in renal proximal tubules of diabetic Zucker rats. J Am Soc Nephrol 1997; 8: 943-948. (Pubitemid 27427241)
48. Rahmoune H, Thompson PW, Ward JM et al. Glucose transporters in human renal proximal tubular cells isolated from the urine of patients with non-insulin-dependent diabetes. Diabetes 2005; 54: 3427-3434. (Pubitemid 43334332)
49. Freitas HS, Anhe GF, Melo KF et al. Na(+)-glucose transporter-2 messenger ribonucleic acid expression in kidney of diabetic rats correlates with glycemic levels: involvement of hepatocyte nuclear factor-1alpha expression and activity. Endocrinology 2008; 149: 717-724. (Pubitemid 351159342)
50. Freitas HS, D'Agord Schaan B, da Silva RS et al. Insulin but not phlorizin treatment induces a transient increase in GLUT2 gene expression in the kidney of diabetic rats. Nephron Physiol 2007; 105: p42-p51. (Pubitemid 46438569)
51. Yamagata K, Oda N, Kaisaki PJ et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455-458. (Pubitemid 26414660)
52. Menzel R, Kaisaki PJ, Rjasanowski I et al. A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene. Diabet Med 1998; 15: 816-820. (Pubitemid 28451949)
53. Pontoglio M, Prie D, Cheret C et al. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Rep 2000; 1: 359-365.
54. Pontoglio M, Sreenan S, Roe M et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest 1998; 101: 2215-2222. (Pubitemid 28244105)
55. Pontoglio M, Barra J, Hadchouel M et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 1996; 84: 575-585. (Pubitemid 26071738)
56. Han S, Hagan DL, Taylor JR et al. Dapagliflozin, a selective SGLT2 inhibitor, improves glucose homeostasis in normal and diabetic rats. Diabetes 2008; 57: 1723-1729.
57. Yu L, Lv JC, Zhou XJ et al. Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients. Hum Genet 2010; e-pub ahead of print 17 December 2010.