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Urolithiasis in a Large Kindred Deficient in Adenine Phosphoribosyltransferase (Aprt)

  • M. H. Gault
  • T. O’Toole
  • J. M. Wilson
  • R. H. Payne
  • T. H. Ittel
  • A. Simmons
  • D. N. Churchill
  • J. Morgan
Conference paper

Abstract

Dihydroxyadenine urolithiasis was first described in 1974 by Cartier et al1 and confirmed by Simmonds et al.2. The subject has been recently reviewed3,4. The poorly soluble purine, 2,8-dihydroxyadenine, appears in urine when there is a homozygous deficiency of adenine phosphoribosyltransferase (APRT). Calculus formation, crystal type nephrotoxicity and renal failure have been described, mainly in children. 0f 20 patients reported with dihydroxyadenine calculi3-8, including the family to be discussed, the onset of symptoms was under 4 years in 11 and under 10 years in all but 4, 3 of whom were from Japan. Patients commonly present with symptoms of urinary obstruction such as abdominal or flank pain, but also with frequent passage of small stones, macrohematuria, urinary tract infection and renal failure3,4.

Keywords

Uric Acid Calculus Formation Adenine Phosphoribosyltransferase Uric Acid Production APRT Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    P. Cartier and M. Hamet, CR. Acad. Sci. (Paris), 297:883 (1974).Google Scholar
  2. 2.
    H. A. Simmonds, K. J. Van Acker, J. Cameron, and W. Snedden, Biochem. J. 157:485 (1976).PubMedGoogle Scholar
  3. 3.
    H. A. Simmonds and K. J. Van Acker, in: “Metabolic Basis of Inherited Disease”, 5th ed. J. B. Stanbury, J. B. Wyngaard, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds., McGraw-Hill, New York (1983).Google Scholar
  4. 4.
    F. R. Witten, J. W. Morsan, J. G. Foster, and J. F. Glenn, J. Urol. 130:938 (1983).PubMedGoogle Scholar
  5. 5.
    H. Takeughi, T. Tomoyoshi, Y. Takahashi, O. Yoshida, M. Uchda, and T. Nakamura, Acta Urol. Jap. 27:189 (1981).Google Scholar
  6. 6.
    K. Sakamoto, Y. Fujisawa, A. Ohmori, K. Minoda, H. Yamanaka, and K. Nishioka, Urol. Int. 36:274 (1981).PubMedCrossRefGoogle Scholar
  7. 7.
    H. Yamamoto, Personal Communication, 1981.Google Scholar
  8. 8.
    T. Nakamoto, H. Nakatsu, T. Kishi, N. Sakura, T. Usui, and H. Nihira, J. Urol., 130:580 (1982).Google Scholar
  9. 9.
    M. H. Gault, H. A. Simmonds, W. Snedden, D. Dow, D. N. Churchill, and H. Penney, New Engl. J. Med. 305:1570 (1981).PubMedCrossRefGoogle Scholar
  10. 10.
    T. M. O’Toole, J. M. Wilson, M. H. Gault, and W. N. Kelley, Biochem. Gen. 21:1121 (1983).CrossRefGoogle Scholar
  11. 11.
    J. A. Tischfield and F. H. Ruddle, Proc. Nat. Acad. Sci. 71:45 (1974).PubMedCrossRefGoogle Scholar
  12. 12.
    E. B. Robson, P. E. Polani, S. J. Dart, A. A. Jacobs, and J. H. Renwick, Nature 223:1163 (1967).CrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1985

Authors and Affiliations

  • M. H. Gault
    • 1
    • 2
    • 3
  • T. O’Toole
    • 1
    • 2
    • 3
  • J. M. Wilson
    • 1
    • 2
    • 3
  • R. H. Payne
    • 1
    • 2
    • 3
  • T. H. Ittel
    • 1
    • 2
    • 3
  • A. Simmons
    • 1
    • 2
    • 3
  • D. N. Churchill
    • 1
    • 2
    • 3
  • J. Morgan
    • 1
    • 2
    • 3
  1. 1.St. John’s NewfoundlandMemorial University and the General HospitalCanada
  2. 2.The Purine LaboratoryGuy’s HospitalLondonUK
  3. 3.The Purine Research CenterUniversity of MichiganAnn ArborUSA

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