Skip to main content
SpringerLink
Log in

Skeletal features of primary hyperoxaluria type 1, revisited

  • Original Clinical Article
  • Published:
Journal of Children's Orthopaedics

Abstract

Purpose

The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias.

Methods

We clinically and radiographically reviewed 12 consecutive patients diagnosed with PH1, aged between 2 and 17 years. All patients had evidence of some type of renal involvement, 4 of whom were at end-stage renal disease (ESRD) and were under dialysis.

Results

The main symptom was skeletal pain and was present only in the 4 severely involved patients and appeared during the second year of dialysis. The 2 most severely involved patients had evidence of pathological fractures. Radiological signs were present in patients with or without symptoms. These radiological signs were of two distinct types: those almost specific of oxalosis, such as dense and radiolucent metaphyseal bands and vertebral osteocondensations, which are found mainly in the severely involved individuals, and those less specific, such as signs of renal osteodystrophy, which are also found in less severely involved patients. Interestingly, our study revealed the presence of spondylolysis in 25% of cases. This latter finding is unique and has not previously been reported in the literature.

Conclusions

The skeletal manifestations of PH1 include specific and less specific radiological signs, with some patients being asymptomatic, and others presenting with bone pain and pathological fractures, as well as spondylolysis.

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

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8

Similar content being viewed by others

References

  1. Leumann EP, Hoppe B (2001) The primary hyperoxalurias. J Am Soc Nephrol 12:1986–1993

    CAS  Google Scholar 

  2. Maldonado I, Prasad V, Reginato AJ (2002) Oxalate crystal deposition disease. Curr Rheumatol Rep 4:257–264

    Article  Google Scholar 

  3. Danpure CJ (2001) Primary hyperoxaluria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Voelstein B (eds). The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3323–3367

    Google Scholar 

  4. Cochat P (1999) Primary hyperoxaluria type 1. Kidney Int 55:2533–2547

    Article  CAS  Google Scholar 

  5. Cochat P, Rolland MO, Bozon D, Dumontel C, Divry P (1994) Molecular pathology of type 1 primary hyperoxaluria. Nephrologie 15(6):375–380 (Article in French)

    CAS  Google Scholar 

  6. Danpure CJ (1994) Molecular and cell biology of primary hyperoxaluria type 1. Clin Invest 72:725–727

    Article  CAS  Google Scholar 

  7. Danpure CJ (1998) The molecular basis of alanine: gloxylate aminotransférase mistargeting: the most common cause of primary hyperoxaluria type 1. J Nephrol 11:8–12

    Google Scholar 

  8. Danpure CJ, Jennings PR, Fryer P, Perdue PE, Allsop J (1994) Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity. J Inherit Metab Dis 17:487–499

    Article  CAS  Google Scholar 

  9. Leumann E, Hoppe B (1997) Urolithiasis in childhood. In: Proesmans W (ed) Therapeutic strategies in children with renal disease. Baillière’s Clinical Paediatrics 5, London, pp 653–674

    Google Scholar 

  10. Leumann E, Hoppe B (1999) What is new about primary hyperoxaluria? Nephrol Dial Transplant 14:2556–2558

    Article  CAS  Google Scholar 

  11. Milliner DS, Wilson DM, Smith LH (1998) Clinical expression and long-term outcomes of primary hyperoxaluria types 1 and 2. J Nephrol 11(Suppl 1):56–59

    Google Scholar 

  12. Anderson DE, Davidson JK, Catto ME (1983) Case report 227: primary hyperoxaluria (oxalosis). Skeletal Radiol 9:266–271

    Article  CAS  Google Scholar 

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

    CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  15. Breed A, Chesney R, Friedman A, Gilbert E, Langer L, Lattoraca R (1981) Oxalosis-induced bone disease: a complication of transplantation and prolonged survival in primary hyperoxaluria. J Bone Joint Surg Am 63:310–316

    CAS  Google Scholar 

  16. Canavese C, Salomone M, Massara C, Portigliatti Barbos M, Cadario A, Pavan I, Marangella M, Petrarulo M, Rotolo U (1990) Primary oxalosis mimicking hyperparathyroidism diagnosed after long-term hemodialysis. Am J Nephrol 10:344–349

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  18. Desmond P, Hennessy O (1993) Skeletal abnormalities in primary oxalosis. Australas Radiol 37:83–85

    Article  CAS  Google Scholar 

  19. Elmstahl B, Rausing A (1997) A case of hyperoxaluria: Radiological aspects. Acta Radiol 38:1031–1034

    CAS  Google Scholar 

  20. 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  Google Scholar 

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

    CAS  Google Scholar 

  22. Hoffman GS, Schumacher HR, Paul H, Cherian V, Reed R, Ramsay AG, Franck WA (1982) Calcium oxalate microcrystalline-associated arthritis in end-stage renal disease. Ann Intern Med 97:36–42

    Article  CAS  Google Scholar 

  23. Julian BA, Faugere MC, Malluche HH (1987) Oxalosis in bone causing a radiographical mimicry of renal osteodystrophy. Am J Kidney Dis 9:436–440

    Article  CAS  Google Scholar 

  24. Kalifa G, Dossans B, Gagnadoux MF, Sauvegrain J (1979) Radiological aspects of oxalosis. J Radiol Electrol Med Nucl 60:45–49 (Article in French)

    CAS  Google Scholar 

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

    CAS  Google Scholar 

  26. Levadoux M, Picon G, Gadea J, Delarue A, Jouve JL, Bollini G (1999) Iterative fractures in type I primary hyperoxaluria. Report of 2 cases. Rev Chir Orthop Reparatrice Appar Mot 85:75–80 (Article in French)

    CAS  Google Scholar 

  27. 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 Rel Res 4:49–59

    Article  CAS  Google Scholar 

  28. Martijn A, Thijn CJ (1982) Radiologic findings in primary hyperoxaluria. Skeletal Radiol 8:21–24

    Article  CAS  Google Scholar 

  29. Reginato AJ, Ferreiro Seoane JL, Barbazan Alvarez C, Mitja Piferrer J, Vidal Meijon L, Pascual Turon R, Vasconez F, Rivera ER, Clayburne G, Rothfuss S (1986) Arthropathy and cutaneous calcinosis in hemodialysis oxalosis. Arthritis Rheum 29:1387–1396

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  31. Schnitzler CM, Kok JA, Jacobs DW, Thomson PD, Milne FJ, Mesquita JM, King PC, Fabian VA (1991) Skeletal manifestations of primary oxalosis. Pediatr Nephrol 5:193–199

    Article  CAS  Google Scholar 

  32. Vichi GF, Bongini U, Seracini D, Lavoratti GC (1995) Progression of bone lesions in a child with primary hyperoxaluria type 1: evaluation by roentgenology an MRI. Pediatr Radiol 25(Suppl 1):S102–S104

    Google Scholar 

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

    Article  CAS  Google Scholar 

  34. Yalcinkaya F, Tumer N, Onder S, Kuzu I (1998) An 8-year-old boy with renal failure, nephrolithiasis and bone pain. Eur J Pediatr 157:255–256

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Orthopaedic Surgery, Hôtel-Dieu de France Hospital, Boulevard Alfred Naccache, Achrafieh, Beirut, Lebanon

    Samer El Hage, Ismat Ghanem, Fernand Dagher & Khalil Kharrat

  2. Department of General Surgery, Hôtel-Dieu de France Hospital, Beirut, Lebanon

    André Baradhi

  3. Department of Paediatrics, Hôtel-Dieu de France Hospital, Beirut, Lebanon

    Chebel Mourani

  4. Department of Nephrology, Hôtel-Dieu de France Hospital, Beirut, Lebanon

    Samir Mallat

Authors
  1. Samer El Hage
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ismat Ghanem
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. André Baradhi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Chebel Mourani
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Samir Mallat
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Fernand Dagher
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Khalil Kharrat
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ismat Ghanem.

About this article

Cite this article

El Hage, S., Ghanem, I., Baradhi, A. et al. Skeletal features of primary hyperoxaluria type 1, revisited. J Child Orthop 2, 205–210 (2008). https://doi.org/10.1007/s11832-008-0082-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11832-008-0082-4

Keywords

Search

Navigation