American Journal of Kidney Diseases
Volume 52, Issue 6 , Pages 1031-1034 , December 2008

Oxalate Transport as Contributor to Primary Hyperoxaluria: The Jury Is Still Out

  • Gill Rumsby, PhD, FRCPath

      Affiliations

    • Corresponding Author InformationAddress correspondence to Gill Rumsby, PhD, FRCPath, Clinical Biochemistry, University College London Hospitals, 60 Whitfield St, London W1T 4EU, United Kingdom

References 

  1. Monico CG, Weinstein A, Jiang Z, et al. Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis. Am J Kidney Dis. 2008;52:1096–1103
  2. Latta K, Brodehl J. Primary hyperoxaluria I. Eur J Pediatr. 1990;149:518–522
  3. Monico CG, Persson M, Ford CH, Rumsby G, Milliner DS. Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. Kidney Int. 2002;62:392–400
  4. Van Acker KJ, Eyskens FJ, Espeel MF, et al. Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria. Kidney Int. 1996;50:1747–1752
  5. Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ. Human peroxisomal L-alanine:glyoxylate aminotransferase: Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem J. 1990;268:517–520
  6. Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet. 1999;8:2063–2069
  7. Rumsby G, Cregeen D. Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase. Biochim Biophys Acta. 1999;1446:383–388
  8. Pirulli D, Marangella M, Amoroso A. Primary hyperoxaluria: Genotype-phenotype correlation. J Nephrol. 2003;16:297–309
  9. Monico CG, Olson JB, Milliner DS. Implications of genotype and enzyme phenotype in pyridoxine response of patients with type 1 primary hyperoxaluria. Am J Nephrol. 2005;25:183–188
  10. Rumsby G, Williams E, Coulter-Mackie MB. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int. 2004;66:959–963
  11. Zhang X, Roe M, Hou Y, et al. Crystal structure of alanine:glyoxylate aminotranferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. J Mol Biol. 2003;331:643–652
  12. Booth MPS, Conners R, Rumsby G, Brady RL. Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. J Mol Biol. 2006;360:178–189
  13. Frishberg Y, Rinat C, Khatib I, et al. Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. Am J Nephrol. 2005;25:269–275
  14. Behnam JT, Williams EL, Brink S, Rumsby G, Danpure CJ. Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. Biochem J. 2006;394:409–416
  15. Everett LA, Green ED. A family of mammalian anion transporters and their involvement in human genetic disease. Hum Mol Genet. 1999;8:1883–1891
  16. Lohi H, Kujala M, Kerkela E, Saarialho-Kere U, Kestila M, Kere J. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics. 2000;70:102–112
  17. Wang Z, Petrovic S, Mann E, Soleimani M. Identification of an apical Cl−/HCO3− exchanger in the small intestine. Am J Physiol Gastrointest Liver Physiol. 2002;282:G573–G579
  18. Knauf F, Yang S-L, Thomson RB, Mentone SA, Giebisch G, Aronson PS. Identification of a chloride-formate exchanger expressed on the brush border membrane of renal proximal tubule cells. Proc Nat Acad Sci USA. 2001;98:9425–9430
  19. Kujala M, Tienari J, Lohi H, et al. SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney. Nephron Exp Nephrol. 2005;101:e50–e58
  20. Silberg DG, Wang W, Moseley RH, Traber PG. The Down Regulated in Adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein. J Biol Chem. 1995;270:11897–11902
  21. Freel RW, Hatch M, Green M, Soleimani M. Ileal oxalate absorption and urinary oxalate excretion are enhanced in Slc26a6 null mice. Am J Physiol Gastrointest Liver Physiol. 2006;290:G719–G728
  22. Jiang Z, Asplin JR, Evan AP, et al. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nat Genet. 2006;38:474–478
  23. Hatch M, Freel RW. The roles and mechanisms of intestinal oxalate transport in oxalate homeostasis. Semin Nephrol. 2008;28:143–151
  24. Salido EC, Li XM, Lu Y, et al. Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. Proc Nat Acad Sci USA. 2006;103:18249–18254
  25. Chernova MN, Jiang L, Friedman DJ, et al. Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants. J Biol Chem. 2005;2005:8564–8580
  26. Clark JS, Vandorpe DH, Chernova MN, Heneghan JF, Stewart AK, Alper SL. Species differences in Cl− affinity and in electrogenicity of SLC26A6-mediated oxalate/Cl− exchange correlate with the distinct human and mouse susceptibilities to nephrolithiasis. J Physiol. 2008;586:1291–1306
  27. Hatch M, Freel RW, Vaziri N. Intestinal excretion of oxalate in chronic renal failure. J Am Soc Nephrol. 1994;5:1339–1343
  28. Hoppe B, Beck B, Gatter N, et al. Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. Kidney Int. 2006;70:1305–1311
  29. Waldegger S, Moschen I, Ramirez A, et al. Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 family. Genomics. 2001;72:43–50

PII: S0272-6386(08)01474-1

doi: 10.1053/j.ajkd.2008.10.004

American Journal of Kidney Diseases
Volume 52, Issue 6 , Pages 1031-1034 , December 2008

Article Tools

* Image Usage & Resolution