Skip to main content

Advertisement

Log in

Bone impairment in primary hyperoxaluria: a review

  • Review
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

Abstract

Deposition of calcium oxalate crystals in the kidney and bone is a hallmark of primary hyperoxaluria (PH). Since the bone compartment can store massive amounts of oxalate, patients present with recurrent low-trauma fractures, bone deformations, severe bone pains, and specific oxalate osteopathy on X-ray. Bone biopsy from the iliac crest displays specific features such as oxalate crystals surrounded by a granulomatous reaction corresponding to an invasion of bone surface by macrophages. The objective of this manuscript is therefore to provide an overview of bone impairment in PH, by reviewing the current literature on bone and dental symptoms as well as imaging techniques used for assessing bone disease.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Marengo SR, Romani AM (2008) Oxalate in renal stone disease: the terminal metabolite that just won’t go away. Nat Clin Pract Nephrol 4:368–377

    Article  CAS  PubMed  Google Scholar 

  2. Cochat P, Rumsby G (2013) Primary hyperoxaluria. N Engl J Med 369:649–658

    Article  CAS  PubMed  Google Scholar 

  3. Cochat P, Liutkus A, Fargue S, Basmaison O, Ranchin B, Rolland MO (2006) Primary hyperoxaluria type 1: still challenging! Pediatr Nephrol 21:1075–1081

    Article  PubMed  Google Scholar 

  4. Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y (2010) Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet 87:392–399

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Marangella M, Vitale C, Petrarulo M, Tricerri A, Cerelli E, Cadario A, Barbos MP, Linari F (1995) Bony content of oxalate in patients with primary hyperoxaluria or oxalosis-unrelated renal failure. Kidney Int 48:182–187

    Article  CAS  PubMed  Google Scholar 

  6. Toussaint C, Vienne A, De Pauw L, Gelin M, Janssen F, Hall M, Schurmans T, Pasteels JL (1995) Combined liver-kidney transplantation in primary hyperoxaluria type 1. Bone histopathology and oxalate body content. Transplantation 59:1700–1704

    Article  CAS  PubMed  Google Scholar 

  7. Morgan SH, Purkiss P, Watts RW, Mansell MA (1987) Oxalate dynamics in chronic renal failure. Comparison with normal subjects and patients with primary hyperoxaluria. Nephron 46:253–257

    Article  CAS  PubMed  Google Scholar 

  8. Marangella M, Cosseddu D, Petrarulo M, Vitale C, Linari F (1993) Thresholds of serum calcium oxalate supersaturation in relation to renal function in patients with or without primary hyperoxaluria. Nephrol Dial Transplant 8:1333–1337

    CAS  PubMed  Google Scholar 

  9. Bacchetta J, Harambat J, Cochat P, Salusky IB, Wesseling-Perry K (2012) The consequences of chronic kidney disease on bone metabolism and growth in children. Nephrol Dial Transplant 27:3063–3071

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  10. El Hage S, Ghanem I, Baradhi A, Mourani C, Mallat S, Dagher F, Kharrat K (2008) Skeletal features of primary hyperoxaluria type 1, revisited. J Child Orthop 2:205–210

    Article  PubMed Central  PubMed  Google Scholar 

  11. Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, Schaefer F, Verrina E, Jager KJ, Cochat P, European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association (ESPN/ERA-EDTA) Registry (2012) Characteristics and outcomes of children with primary oxalosis requiring renal replacement therapy. Clin J Am Soc Nephrol 7:458–465

    Article  PubMed Central  PubMed  Google Scholar 

  12. Nissel R, Latta K, Gagnadoux MF, Kelly D, Hulton S, Kemper MJ, Ruder H, Soderdahl G, Otte JB, Cochat P, Roquet O, Jamieson NV, Haffner D (2006) Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1. Transplantation 82:48–54

    Article  PubMed  Google Scholar 

  13. Tammachote R, Kingsuwannapong N, Tongkobpetch S, Srichomthong C, Yeetong P, Kingwatanakul P, Monico CG, Suphapeetiporn K, Shotelersuk V (2012) Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. Am J Med Genet A 158A:2124–2130

    Article  PubMed  Google Scholar 

  14. Verbruggen LA, Bourgain C, Verbeelen D (1989) Late presentation and microcrystalline arthropathy in primary hyperoxaluria. Clin Exp Rheumatol 7:631–633

    CAS  PubMed  Google Scholar 

  15. Bernhardt WM, Schefold JC, Weichert W, Rudolph B, Frei U, Groneberg DA, Schindler R (2006) Amelioration of anemia after kidney transplantation in severe secondary oxalosis. Clin Nephrol 65:216–221

    Article  CAS  PubMed  Google Scholar 

  16. Salido EC, Li XM, Lu Y, Wang X, Santana A, Roy-Chowdhury N, Torres A, Shapiro LJ, Roy-Chowdhury J (2006) Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer. Proc Natl Acad Sci U S A 103:18249–18254

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  17. Day DL, Scheinman JI, Mahan J (1986) Radiological aspects of primary hyperoxaluria. Am J Roentgenol 146:395–401

    Article  CAS  Google Scholar 

  18. Brancaccio D, Poggi A, Ciccarelli C, Bellini F, Galmozzi C, Poletti I, Maggiore Q (1981) Bone changes in end-stage oxalosis. Am J Roentgenol 136:935–939

    Article  CAS  Google Scholar 

  19. Kamoun A, Hammou A, Chaouachi S, Bellagha I, Lakhoua R (1995) Radiological signs of type I primary hyperoxaluria. Ann Radiol (Paris) 38:440–446

    CAS  Google Scholar 

  20. Wiggelinkhuizen J, Fisher RM (1982) Oxalosis of bone. Pediatr Radiol 12:307–309

    Article  CAS  PubMed  Google Scholar 

  21. Fisher D, Hiller N, Drukker A (1995) Oxalosis of bone: report of four cases and a new radiological staging. Pediatr Radiol 25:293–295

    Article  CAS  PubMed  Google Scholar 

  22. Ring E, Wendler H, Ratschek M, Zobel G (1989) Bone disease of primary hyperoxaluria in infancy. Pediatr Radiol 20:131–133

    Article  CAS  PubMed  Google Scholar 

  23. Bacchetta J, Fargue S, Boutroy S, Basmaison O, Vilayphiou N, Plotton I, Guebre-Egziabher F, Dohin B, Kohler R, Cochat P (2010) Bone metabolism in oxalosis: a single-center study using new imaging techniques and biomarkers. Pediatr Nephrol 25:1081–1089

    Article  PubMed  Google Scholar 

  24. Orazi C, Picca S, Schingo PM, Fassari FM, Canepa G (2009) Oxalosis in primary hyperoxaluria in infancy: Report of a case in a 3-month-old baby. Follow-up for 3 years and review of literature. Skeletal Radiol 38:387–391

    Article  PubMed  Google Scholar 

  25. Behnke B, Kemper MJ, Kruse HP, Muller-Wiefel DE (2001) Bone mineral density in children with primary hyperoxaluria type I. Nephrol Dial Transplant 16:2236–2239

    Article  CAS  PubMed  Google Scholar 

  26. Stenger KO, Sterneck M, Kromminga A (2014) TRACP5b als ein alternativer marker für schwere und fortschreiten der erkrankung an prïmarer hyperoxalurie typ 1. Nieren und Hochdruckkrankheiten:217–228

  27. Glass RT (1973) Oral manifestations in primary hyperoxaluria and oxalosis. Report of a case. Oral Surg Oral Med Oral Pathol 35:502–509

    Article  CAS  PubMed  Google Scholar 

  28. Mitsimponas KT, Wehrhan T, Falk S, Wehrhan F, Neukam FW, Schlegel KA (2012) Oral findings associated with primary hyperoxaluria type I. J Craniomaxillofac Surg 40:e301–e306

    Article  CAS  PubMed  Google Scholar 

  29. Moskow BS (1989) Periodontal manifestations of hyperoxaluria and oxalosis. J Periodontol 60:271–278

    Article  CAS  PubMed  Google Scholar 

  30. Guerra EN, Vianna L, Sobreira MN, de Araujo FN, de Melo NS (2011) Oral manifestations of hyperoxaluria. J Craniofac Surg 22:2191–2192

    Article  PubMed  Google Scholar 

  31. Hernandez JD, Wesseling K, Pereira R, Gales B, Harrison R, Salusky IB (2008) Technical approach to iliac crest biopsy. Clin J Am Soc Nephrol 3(Suppl 3):S164–S169

    Article  PubMed Central  PubMed  Google Scholar 

  32. Benhamou CL, Pierre D, Geslin N, Viala JF, Maitre F, Chavassieux P, Edouard C, Meunier PJ (1987) Primary bone oxalosis: the roles of oxalate deposits and renal osteodystrophy. Bone 8:59–64

    Article  CAS  PubMed  Google Scholar 

  33. Adams ND, Carrera GF, Johnson RP, Latorraca R, Lemann J Jr (1982) Calcium-oxalate-crystal-induced bone disease. Am J Kidney Dis 1:294–299

    Article  CAS  PubMed  Google Scholar 

  34. Milgram JW, Salyer WR (1974) Secondary oxalosis of bone in chronic renal failure. A histopathological study of three cases. J Bone Joint Surg Am 56:387–395

    CAS  PubMed  Google Scholar 

  35. Brady HR, Fay WP, Meema HE, Rabinovich S, Rapoport A, Oreopoulos DG (1989) Oxalate bone disease–an emerging form of renal osteodystrophy. Int J Artif Organs 12:715–719

    CAS  PubMed  Google Scholar 

  36. Benhamou CL, Bardin T, Tourliere D, Voisin L, Audran M, Edouard C, Lafage MH, Sebert JL, de Vernejoul MC, Wendling D (1991) Bone involvement in primary oxalosis. Study of 20 cases. Rev Rhum Mal Osteoartic 58:763–769

    CAS  PubMed  Google Scholar 

  37. Bala Y, Farlay D, Boivin G (2013) Bone mineralization: from tissue to crystal in normal and pathological contexts. Osteoporos Int 24:2153–2166

    Article  CAS  PubMed  Google Scholar 

  38. Gherardi G, Poggi A, Sisca S, Calderaro V, Bonucci E (1980) Bone oxalosis and renal osteodystrophy. Arch Pathol Lab Med 104:105–111

    CAS  PubMed  Google Scholar 

  39. Jahn H, Frank RM, Voegel JC, Schohn D (1980) Scanning electron microscopy and x-ray diffraction studies of human bone oxalosis. Calcif Tissue Int 30:109–119

    Article  CAS  PubMed  Google Scholar 

  40. Lagier R, Revell P, Schoenboerner A (1982) Calcium oxalate deposition in growing bone: anatomical and radiological study in a case of primary oxalosis. Metab Bone Dis Relat Res 4:49–59

    Article  CAS  PubMed  Google Scholar 

  41. Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS, OxalEurope (2012) Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant 27:1729–1736

    Article  CAS  PubMed  Google Scholar 

Download references

Disclosures

None of the authors has direct conflicts of interest concerning the present manuscript.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Justine Bacchetta.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bacchetta, J., Boivin, G. & Cochat, P. Bone impairment in primary hyperoxaluria: a review. Pediatr Nephrol 31, 1–6 (2016). https://doi.org/10.1007/s00467-015-3048-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-015-3048-z

Keywords

Navigation