The Primary Hyperoxalurias

Seminars in Nephrology

Volumn 28, Issue 2, 2008, Pages 152-162

  Bobrowski, Amy E ^a   Langman, Craig B ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Alanine:glyoxylate aminotransferase; glyoxylate reductase hydroxypyruvate reductase; hyperoxaluria; kidney stones; peroxisomal disorders; probiotics; pyridoxine; systemic oxalosis

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; CALCIUM OXALATE; CITRATE POTASSIUM; CITRATE SODIUM; GLYOXYLATE REDUCTASE; OXALIC ACID; OXIDOREDUCTASE; PHOSPHATE; PROBIOTIC AGENT; PYRIDOXAMINE; PYRIDOXINE; RECOMBINANT ALANINE GLYOXYLATE AMINOTRANSFERASE; RECOMBINANT ENZYME; UNCLASSIFIED DRUG;

ARTICLE; BACTERIAL COLONIZATION; CELL BASED GENE THERAPY; CLINICAL FEATURE; CRYSTAL STRUCTURE; CRYSTALLIZATION; DIABETIC NEPHROPATHY; DIAGNOSTIC ACCURACY; DIET RESTRICTION; DISEASE SEVERITY; DRUG DOSE INCREASE; ENZYME ACTIVITY; FLUID THERAPY; FRAMESHIFT MUTATION; GENE MUTATION; GRAFT SURVIVAL; HEMODIALYSIS; HEPATOCYTE TRANSPLANTATION; HUMAN; INTESTINE ABSORPTION; KIDNEY CALCIFICATION; KIDNEY DYSFUNCTION; KIDNEY TRANSPLANTATION; KIDNEY TUBULE ABSORPTION; LIPOSOMAL GENE DELIVERY SYSTEM; LIVER TRANSPLANTATION; MUTATIONAL ANALYSIS; NONHUMAN; OXALOBACTER FORMIGENES; OXALOSIS 1; PERITONEAL DIALYSIS; PRIORITY JOURNAL; PROGNOSIS; RECURRENT DISEASE; RECURRENT INFECTION; TREATMENT OUTCOME; URINARY TRACT INFECTION; UROLITHIASIS;

GENE THERAPY; HUMANS; HYPEROXALURIA, PRIMARY; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION;

EID: 40949105172     PISSN: 02709295     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.semnephrol.2008.01.008     Document Type: Article

References (52)

1. Milliner D., Wilson D., and Smith L. Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. Kidney Int 59 (2001) 31-36
2. Milliner D., Wilson D., and Smith L. Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. J Nephrol 11 Suppl (1998) 56-59
3. Monico C.G., Milliner D.S., Wilson D.M., and Rumsby G. Atypical primary hyperoxaluria: PH type III?. Nephrol Dial Transplant 14 (1999) 2784-2789
4. Lieske J.C., Monico C.G., Holmes W.S., et al. International Registry for Primary Hyperoxaluria. Am J Nephrol 25 (2005) 290-296
5. Danpure C., and Rumsby G. Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med 6 (2004) 1-16
6. Monico C.G., Rossetti S., Schwanz H.A., et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. J Am Soc Nephrol 18 (2007) 1905-1914
7. Caldwell E.F., Mayor L.R., Thomas M.G., and Danpure C.J. Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations. Hum Genet 115 (2004) 504-509
8. Tarn A.C., von Schnakenburg C., and Rumsby G. Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT). J Inherit Metab Dis 20 (1997) 689-696
9. Lumb M.J., and Danpure C.J. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. J Biol Chem 275 (2000) 36415-36422
10. Cramer S.D., Ferree P.M., Lin K., et al. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet 8 (1999) 2063-2069
11. Webster K.E., and Cramer S.D. Genetic basis of primary hyperoxaluria type II. Mol Urol 4 (2000) 355-364
12. Hoppe B., and Langman C. A United States Survey on diagnosis, treatment, and outcomes of primary hyperoxaluria. Pediatr Nephrol 18 (2003) 986-991
13. Jamieson N. The European PH1 transplant registry report 1984-2007: twenty-three years of combined liver and kidney transplantation for primary hyperoxaluria PH1. Paper presented at: 8th International Primary Hyperoxaluria Workshop (2007) June 29-30; London, UK
14. Rumsby G., Williams E., and Coulter-Mackie M. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. Kidney Int 66 (2004) 959-963
15. Williams E., and Rumsby G. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clin Chem 53 (2007) 1216-1221
16. oussaint C. Pyridoxine-responsive PH1: treatment. J Nephrol 11 Suppl (1998) 49-50
17. Van Woerden C., Groothoff J., Wijburg F., et al. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int 66 (2004) 746-752
18. Monico C., Rossetti S., Olson J., and Milliner D. Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele. Kidney Int 67 (2005) 1704-1709
19. Berger A., and Schaumburg H. More on neuropathy from pyroxidine abuse. N Engl J Med 311 (1984) 986-987
20. Leumann E., Hoppe B., Neuhaus T., and Blau N. Efficacy of oral citrate administration in primary hyperoxaluria. Nephrol Dial Transplant 10 Suppl (1995) 14-16
21. Milliner D., Eickholt J., Bergstrahl I., et al. Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med 331 (1994) 1553-1558
22. Jiang Z., Asplin J., Aronson P., et al. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nat Genet 38 (2006) 474-478
23. Freel R.W., Hatch M., Green M., and Soleimani M. Ileal oxalate absorption and urinary oxalate excretion are enhanced in Slc26a6 null mice. Am J Physiol 290 (2006) G719-G728
24. Hatch M., Cornelius J., Allison M., et al. Oxalobacter sp. reduces urinary oxalate excretion promoting enteric oxalate excretion. Kidney Int 69 (2006) 1-8
25. Hoppe B., Beck B., Gatter N., et al. Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. Kidney Int 70 (2006) 1305-1311
26. Grujic D., Salido E.C., Cachero T.G., et al. Oral therapy with crystalline formulation of oxalate degrading enzyme in rodent models with hyperoxaluria [abstract]. Paper presented at: 8th International Primary Hyperoxaluria Workshop (2007) June 29-30; London, UK
27. Sarica K., Erbagci A., Yagci F., et al. Limitations of apoptotic changes in renal tubular cell injury induced by hyperoxaluria. Urol Res 32 (2004) 271-277
28. Williams M.E., Kline Bolton W., Khalifah R.G., et al. Effects of pyridoxamine in combined phase 2 studies of patients with type 1 and type 2 diabetes and overt nephropathy. Am J Nephrol 27 (2007) 605-614
29. Chetyrkin S., Kim D., Belmont J., et al. Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria. Kidney Int 67 (2005) 53-60
30. Lumb M., Birdsey G., and Danpure C. Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro. Biochem J 374 (2003) 79-87
31. Santana A., Salido E., Torres A., and Shapiro L. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci U S A 100 (2003) 7277-7282
32. Yu Z., Sawkar A.R., and Kelly J.W. Pharmacologic chaperoning as a strategy to treat Gaucher disease. FEBS J 274 (2007) 4944-4950
33. Baker P.R., Cramer S.D., Kennedy M., et al. Glycolate and glyoxylate metabolism in HepG2 cells. Am J Physiol 287 (2004) C1359-C1365
34. Marangella M., Cosseddu D., Petrarulo M., et al. Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluria. Nephol Dial Transplant 8 (1993) 1333-1337
35. Jamieson N. A 20-year experience of combined liver/kidney transplantation for primary hyperoxaluria (PH1): the European PH1 Transplant Registry Experience 1984-2004. Am J Nephrol 25 (2005) 282-289
36. Franssen C. Oxalate clearance by haemodialysis-a comparison of seven dialysers. Nephrol Dial Transplant 20 (2005) 1916-1921
37. Diaz C., Catalinas F., De Alvaro F., et al. Long daily hemodialysis sessions correct systemic complications of oxalosis prior to combined liver-kidney transplantation: case report. Ther Apher Dial 8 (2004) 52-55
38. Hoppe B., Graf D., Offner G., et al. Oxalate elimination via hemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol 10 (1996) 488-492
39. United Network for Organ Sharing. [cited 2007 Aug 15]. www.unos.org
40. Cibrik D., Kaplan B., Arndorfer J., and Mier-Kriesche H. Renal allograft survival in patients with oxalosis. Transplantation 74 (2002) 707-710
41. Cochat P., Gaulier J., Koch Nogueira P., et al. Combined liver-kidney transplantation in primary hyperoxaluria type 1. Eur J Pediatr 158 Suppl (1999) S75-S80
42. Gagnadoux M., Lacaille F., Niaudet P., et al. Long term results of liver-kidney transplantation in children with primary hyperoxaluria. Pediatr Nephrol 16 (2001) 946-950
43. Shapiro R., Wismann I., Mandel H., et al. Primary hyperoxaluria type 1: improved outcome with timely liver transplantation: a single-center report of 36 children. Transplantation 72 (2001) 428-432
44. Rogers J., Bueno J., Shapiro R., et al. Results of simultaneous and sequential pediatric liver and kidney transplantation. Transplantation 72 (2001) 1666-1670
45. Astarcioglu I., Karademir S., Gulay H., et al. Primary hyperoxaluria: simultaneous combined liver and kidney transplantation from a living related donor. Liver Transpl 9 (2003) 433-436
46. Nolkemper D., Kemper M., Burdelski M., et al. Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. Pediatr Transplant 4 (2000) 177-181
47. Guha C., Yamanouchi K., Roy-Chowdhury J., et al. Feasibility of hepatocyte transplantation-based therapies for primary hyperoxaluria. Am J Nephrol 25 (2005) 161-170
48. Koul S., Johnson T., Pramanik S., and Koul H. Cellular transfection to deliver alanine-glyoxylate aminotransferase to hepatocytes: a rational gene therapy for primary hyperoxaluria-1 (PH-1). Am J Nephrol 25 (2005) 176-182
49. Monico C., and Milliner D. Combined liver-kidney and kidney-alone transplantation in primary hyperoxaluria. Liver Transpl 7 (2001) 954-963
50. Hoppe B., Latta K., Von Schnakenburg C., and Kemper M. Primary hyperoxaluria-the German experience. Am J Nephrol 25 (2005) 276-281
51. Beck B.B., and Hoppe B. Is there a genotype-phenotype correlation in primary hyperoxaluria type 1 [commentary]. Kidney Int 70 (2006) 984-986
52. Lorenzo V., Alvarez A., Torres A., et al. Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: single-center experience. Kidney Int 70 (2006) 1115-1119