European Journal of Pediatrics

, Volume 138, Issue 4, pp 346–349 | Cite as

Renal failure due to 2,8-dihydroxyadenine urolithiasis

  • M. C. Greenwood
  • M. J. Dillon
  • H. A. Simmonds
  • T. M. Barratt
  • J. R. Pincott
  • C. Metreweli
Case Reports

Abstract

A four-year-old girl presented in renal failure due to dihydroxyadenine urolithiasis. Prior to this she had been fed a high purine macrobiotic diet, rich in pulses and grain. She was comatose, anuric, requiring peritoneal dialysis, and bilateral radiolucent renal calculi were revealed by ultrasonography and retrograde pyelography. 2,8-dihydroxyadenine stones were found at pyelolithotomy, renal biopsy revealed interstitial birefringent crystals, and a complete lack of adenine phosphoribosyl transferase (APRT) was found subsequently in erythrocyte lysates. APRT levels were initially falsely raised due to a blood transfusion on admission. The mother was shown to have heterozygote levels. The child was treated successfully with allopurinol, and a reduction in dietary purine but with only partial return of renal function.

Key words

2,8-dihydroxyadenine adenine phosphoribosyl transferase urolithiasis allopurinol renal failure 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Barratt TM, Simmonds HA, Cameron JS, Potter CF, Rose GA, Arkell DJ, Williams DI (1979) Complete deficiency of APRT. A third case presenting as renal stones in a young child. Arch Dis Child 54:25–31Google Scholar
  2. 2.
    Cartier P, Hamet M (1974) Une nouvelle maladie metabolique: Le défecit complet en APRT avec lithiase de 2–8 dihydroxy-adenine. Compts Rendus Hebdomadaires des séances de l'Academie des Sciences. Serie D, Sciences Nouvelle 279:883–886Google Scholar
  3. 3.
    Cartier P, Hamet M, Vincens A, Perignon JL (1979) Complete adenine phosphoribosyltransferase (APRT) deficiency in two siblings. Report of a new case. In: Rapado A, Watts RWE, De Bruyn CHMM (eds) Purine Metabolism in Man, III. Plenum Press, New York, 122A, pp 343–349Google Scholar
  4. 4.
    Clifford AJ, Story DL (1976) Levels of purine in foods and their metabolic effects in rats. J Nutr 106:435–442Google Scholar
  5. 5.
    Debray H, Cartier P, Temstet A, Cendron J (1976) Child's urinary lithiasis revealing complete deficit in adenine phosphoribosyltransferase. Pediat Res 10:762–766Google Scholar
  6. 6.
    Devenuto F, Wilson SM, Billings TA, Shields CE (1976) In vivo distribution of injected 14C-dioxyadenine in tissues and organs of normal rats. Transfusion 16 (1):24–31Google Scholar
  7. 7.
    Elion GB, Benezra FM, Beardmore TD, Kelley WN (1979) Studies with allopurinol in patients with impaired renal function. In: Rapado A, Watts RWE, De Bruyn CHMM (eds) Purine Metabolism in Man, III, Plenum Press, New York, 122A, pp 263–26Google Scholar
  8. 8.
    Emmerson BT, Johnson LT, Gordon RB (1976) Incidence of APRT deficiency. Proceedings of the 2nd International Symposium on Purine Metabolism in Man. Muller MM, Kaiser E, Seegmiller JE (eds) Plenum Press, New York, pp 293–294Google Scholar
  9. 9.
    Falk JS, Lindblad GTO, Westman BJM (1972) Histopathological studies on kidneys from patients treated with large amounts of blood preserved with ACD-adenine.. Transfusion 12(6):376–381Google Scholar
  10. 10.
    Farebrother DA, Hatfield P, Simmonds HA, Cameron JS, Jones AS, Cadenhead A (1975) Experimental crystal nephropathy (one year study in the pig). Clin Nephr 4:243–250Google Scholar
  11. 11.
    Joost J, Schabel F, Doppler W (1981) Complete adenine phosphoribosyltransferase deficiency with 2,8-dihydroxyadenine stone formation. Fortschr Urol Nephrol 16:58–65Google Scholar
  12. 12.
    Kuroda M, Miki T, Kiyuhara H, Usami M, Nakamura T, Kotake T, Takemoto M, Sonoda T (1980) Urolithiasis composed of 2,8-dihydroxyadenine due to partial deficiency of adenine phosphoribosyl transferase. Report of a case. Jap J Urol 71:283–288Google Scholar
  13. 13.
    Lindblad G, Jonsson G, Falk F (1973) Adenine toxicity. A three-week intravenous study in dogs. Acta Pharmacol Toxicol 32:246–256Google Scholar
  14. 14.
    Morris MC, Chambers TL, Evans PWG, Malleson PN, Pincott JR, Rose GA (1982) Oxalosis in infancy. Arch Dis Child 57:224–228Google Scholar
  15. 15.
    Philips FS, Thiersch JB, Bendich A (1972) Adenine intoxication in relation to in vivo formation and deposition of 2,8-dihydroxyadenine in renal tubules. J Pharmacol Exp Therap 104:20–30Google Scholar
  16. 16.
    Reveillaud RJ, Daudon M, Protat MF, Vincens A, Graveleau D (1979) Lithiase 2,8-dihydroxyadénique: un nouveau cas dépisté par analyse infra rouge. In: La Nouvelle Presse Medicale 8: 3965–3966Google Scholar
  17. 17.
    Schabel F, Doppler W, Hirsch-Kauffmann M, Glatzl J, Schweiger M, Berger H, Heinz-Erian P (1980) Hereditary deficiency of adenine phosphoribosyl transferase. Pädiatr Pädol 15:233–238Google Scholar
  18. 18.
    Simmonds HA, van Acker KJ, Cameron JS, Sneddon W (1976) The identification of 2,8-dihydroxyadenine, a new component of urinary stones. Biochem J 157:485–487Google Scholar
  19. 19.
    Simmonds HA, Barratt TM, Webster DR, Sahota A, van Acker KJ, Cameron JS, Dillon MJ (1979) Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. In: Rapado A, Watts RWE, De Bruyn CHMM Purine Metabolism in Man, III. Plenum Press, New York, 122A, pp 337–343Google Scholar
  20. 20.
    Story DL, Shrader RE, Theriault LL, Lumijavi DL, Shenoy TS, Savaiano DA, Shaffer RH, Ho CY, Clifford AJ (1977) Effects of dietary protein, adenine and allopurinol on growth and metabolism of rats. J Nutr 107:1044–1052Google Scholar
  21. 21.
    Takemoto M, Nagano S (1979) Urolithiasis producing a calculus containing 2,8-dihydroxyadenine. A case report. Acta Urologica Japonica 25:265–270Google Scholar
  22. 22.
    Van Acker KJ, Simmonds HA, Potter CF, Cameron JS (1977) Complete deficiency of APRT. Report of a family. New Engl J Med 297:127–132Google Scholar
  23. 23.
    Van Acker KJ, Simmonds HA, Potter CF, Sahota A (1979) Inheritance of adenine phosphoribosyltransferase (APRT) deficiency. In: Rapado A, Watts RWE, De Bruyn CHMM Purine Metabolism in Man, III. Plenum Press, New York, 122A, 349–355Google Scholar

Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • M. C. Greenwood
    • 1
  • M. J. Dillon
    • 1
  • H. A. Simmonds
    • 2
  • T. M. Barratt
    • 1
  • J. R. Pincott
    • 1
  • C. Metreweli
    • 1
  1. 1.The Departments of Nephrology, Histopathology and RadiologyThe Hospital for Sick ChildrenLondonEngland
  2. 2.The Purine Laboratory, Department of MedicineGuy's HospitalLondonEngland

Personalised recommendations