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Primary hyperoxaluria

By Борис Попщерев

Volume 12, Issue 1

Original Article / Published: December 2024

DOI:

M. Tahchiev, K. Neykov

Department of Urology, National Oncology Hospital

Abstract

Primary hyperoxaluria (PH) can lead to the formation of kidney stones. When oxalate binds to calcium in the urine, calcium oxalate is produced, which is the most common component of kidney stones. Primary hyperoxaluria is a group of rare genetic disorders causing loss of specific enzyme activity. In turn, this leads to the formation of a large amount of oxalate. 3 types of primary hyperoxaluria have been identified. The first type is the most common, occurring in 80 percent of cases. It leads to end-stage renal failure in childhood. The missing enzyme is alanine-glyoxylate aminotransferase (AGT). Type 2 is significantly less common, with a much more favorable prognosis. Adding pyridoxine to therapy improves results. The missing enzyme is glyoxylate reductase/hydroxy pyruvate reductase (GRHPR). Type 3 is considered to have a favorable prognosis, due to mutations in the HOGA1 gene. It rarely leads to end-stage renal failure. In the diagnosis of PH, laboratory tests, imaging and genetic tests are used. The treatment of PH is based on dietary regimen, high doses of pyrodoxine, magnesium-containing preparations, glycosaminoglycans. RNA interference agents have revolutionized treatment. In patients with end-stage chronic renal failure, dialysis is resorted to and an option for liver-kidney transplantation is discussed.

References

  1. Shah A, Leslie SW, Ramakrishnan S. Hyperoxaluria. 2023 Jan. https://www.ncbi.nlm.nih.gov/books/NBK558987/
  2. Cochat P. Primary hyperoxaluria type 1. Kidney Int. 1999 Jun. 55(6):2533-47.
  3. Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias. Kidney Int. 2009 Jun. 75(12):1264-71.
  4. Mukhin VN, Khomiakov KA. [Phenogenetics of offspring and their ancestors]. Tsitol Genet. 2003 Jul-Aug. 37(4):54-6.
  5. Primary Hyperoxaluria. National Organization for Rare Disorders. Available at https://rarediseases.org/rare-diseases/ primary-hyperoxaluria/. Accessed: August 20, 2021.
  6. Holmes RP, Assimos DG. Glyoxylate synthesis, and its modulation and influence on oxalate synthesis. J Urol. 1998 Nov. 160(5):1617-24.
  7. Curhan GC, Willett WC, Speizer FE, Stampfer MJ. Intake of vitamins B6 and C and the risk of kidney stones in women. J Am Soc Nephrol. 1999 Apr. 10(4):840-5.
  8. Rumsby G, Hulton S-A. Primary Hyperoxaluria Type 2. GeneReviews. Available at https://www.ncbi.nlm.nih.gov/books/ NBK2692/. December 21, 2017; Accessed: August 20, 2021.
  9. Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, et al. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int. 2019 Dec. 96 (6):1389-1399.
  10. Garrelfs SF, Rumsby G, Peters-Sengers H, Erger F, Groothoff JW, Beck BB, et al. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up. Kidney Int. 2019 Dec. 96(6):1389-1399.
  11. Weigert A, Martin-Higueras C, Hoppe B. Novel therapeutic approaches in primary hyperoxaluria. Expert Opin Emerg Drugs. 2018 Dec. 23 (4):349-357.
  12. Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, et al. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet. 2010 Sep 10. 87(3):392-9.
  13. Belostotsky R, Pitt JJ, Frishberg Y. Primary hyperoxaluria type III–a model for studying perturbations in glyoxylate metabolism. J Mol Med (Berl). 2012 Dec. 90(12):1497-504.
  14. Monico CG, Rossetti S, Belostotsky R, Cogal AG, Herges RM, Seide BM, et al. Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. Clin J Am Soc Nephrol. 2011 Sep. 6(9):2289-95.
  15. Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, et al. Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet. 2013 Feb. 21(2):162-72.
  16. Milliner DS, Harris PC, Lieske JC, Pagon RA, Adam MP, Ardinger HH, et al. Primary Hyperoxaluria Type 3. 1993.
  17. Singh P, Viehman JK, Mehta RA, Cogal AG, Hasadsri L, Oglesbee D, et al. Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study. Nephrol Dial Transplant. 2021 Feb 5.
  18. Martin-Higueras C, Garrelfs SF, Groothoff JW, Jacob DE, Moochhala SH, Bacchetta J, et al. A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3. Kidney Int. 2021 Apr 16.
  19. Gentle DL, Stoller ML, Bruce JE, Leslie SW. Geriatric urolithiasis. J Urol. 1997 Dec. 158(6):2221-4.
  20. Goldfarb DS, Parks JH, Coe FL. Renal stone disease in older adults. Clin Geriatr Med. 1998 May. 14(2):367-81.
  21. Нopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, et al. Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria. J Am Soc Nephrol. 2015 Oct. 26 (10):2559-70.
  22. Clifford-Mobley O, Hewitt L, Rumsby G. Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria. Ann Clin Biochem. 2015 Sep 4.
  23. Iguchi M, Takamura C, Umekawa T, Kurita T, Kohri K. Inhibitory effects of female sex hormones on urinary stone formation in rats. Kidney Int. 1999 Aug. 56(2):479-85.
  24. Fan J, Chandhoke PS, Grampsas SA. Role of sex hormones inexperimental calcium oxalate nephrolithiasis. J Am Soc Nephrol. 1999 Nov. 10 Suppl 14:S376-80.
  25. Lee YH, Huang WC, Chiang H, Chen MT, Huang JK, Chang LS. Determinant role of testosterone in the pathogenesis of urolithiasis in rats. J Urol. 1992 Apr. 147(4):1134-8.
  26. Fan J, Glass MA, Chandhoke PS. Effect of castration and finasteride on urinary oxalate excretion in male rats. Urol Res. 1998. 26(1):71-5.
  27. Powell CR, Stoller ML, Schwartz BF, Kane C, Gentle DL, Bruce JE, et al. Impact of body weight on urinary electrolytes in urinary stone formers. Urology. 2000 Jun. 55(6):825-30.
  28. Hoppe B, Kemper MJ, Bökenkamp A, Portale AA, Cohn RA, Langman CB. Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure. Kidney Int. 1999 Jul. 56(1):268-74.
  29. Kemper MJ. Concurrent or sequential liver and kidney transplantation in children with primary hyperoxaluria type 1?. Pediatr Transplant. 2005 Dec. 9(6):693-6.
  30. Nolkemper D, Kemper MJ, Burdelski M, Vaismann I, Rogiers X, Broelsch CE, et al. Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. Pediatr Transplant. 2000 Aug. 4(3):177-81.
  31. Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013 Oct. 28 (10):1923-42.
  32. Nguyen QV, Kälin A, Drouve U, Casez JP, Jaeger P. Sensitivity to meat protein intake and hyperoxaluria in idiopathic calcium stone formers. Kidney Int. 2001 Jun. 59(6):2273-81.
  33. Kotb MA, Hamza AF, Abd El Kader H, El Monayeri M, Mosallam DS, Ali N, et al. Combined liver-kidney transplantation for primary hyperoxaluria type I in children: Single Center Experience. Pediatr Transplant. 2018 Nov 26, e13313.
  34. Cochat P, Basmaison O. Current approaches to the management of primary hyperoxaluria. Arch Dis Child. 2000 Jun. 82(6):470-3.
  35. Milliner D. Treatment of the primary hyperoxalurias: a new chapter. Kidney Int. 2006 Oct. 70(7):1198-200.
  36. Pais VM Jr, Assimos DG. Pitfalls in the management of patients with primary hyperoxaluria: a urologist‘s perspective. Urol Res.
  37. Lieske JC, Goldfarb DS, De Simone C, Regnier C. Use of a probiotic to decrease enteric hyperoxaluria. Kidney Int. 2005 Sep. 68(3):1244-9.
  38. Straub M, Hautmann RE, Hesse A, Rinnab L. [Calcium oxalate stones and hyperoxaluria. What is certain? What is new?]. Urologe A. 2005 Nov. 44(11):1315-23.
  39. Mitwalli A, Ayiomamitis A, Grass L, Oreopoulos DG. Control of hyperoxaluria with large doses of pyridoxine in patients with kidney stones. Int Urol Nephrol. 1988. 20(4):353-9.
  40. Rattan V, Sidhu H, Vaidyanathan S, Thind SK, Nath R. Effect of combined supplementation of magnesium oxide and pyridoxine in calcium-oxalate stone formers. Urol Res. 1994. 22(3):161-5.
  41. Milliner DS, Eickholt JT, Bergstralh EJ, Wilson DM, Smith LH. Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med. 1994 Dec 8. 331(23):1553-8.
  42. Milliner DS, Eickholt JT, Bergstralh EJ, Wilson DM, Smith LH. Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med. 1994 Dec 8. 331(23):1553-8.
  43. Su CJ, Shevock PN, Khan SR, Hackett RL. Effect of magnesium on calcium oxalate urolithiasis. J Urol. 1991 May. 145(5):1092-5.
  44. Erturk E, Kiernan M, Schoen SR. Clinical association with urinary glycosaminoglycans and urolithiasis. Urology. 2002 Apr. 59(4):495-9.
  45. Baum MA, Langman C, Cochat P, and the, PHYOX2 study investigators. PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2. Kidney Int. 2023 Jan. 103 (1):207-217.
Volume 11, Issue 1
Article [pdf]

Keywords:

primary hyperoxaluria, kidney stones, renal failure, enzyme activity.

How to cite this article:

М Tahchiev, К Neykov Primary hyperoxaluria ;Journal of Endourology and Minimally Invasive Surgery, 2024; 11(1): 22-30

Corresponding author:

Dr. Metodi Tahchiev, Department of Urology, National Oncology Hospital;
e-mail: mtahchiev@mail.bg; Tel.: 0879197157