Advertisement

What is the Pathogenesis of Familial Gouty Nephropathy?

Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 309A)

Abstract

Familial juvenile gouty nephropathy (FJGN; McCusick 16200) was first noted by Duncan and Dixon in 1960 (1). We first observed the condition in 1968–72 (2), and by 1990 18 papers describing 38 affected kindreds containing 130 affected individuals had been described (3), plus three new kindreds described more recently (4–7). We are also aware of a number of unpublished kindreds, from some of whom material has been available to us for study. The purpose of this communication is to summarise what information we have accumulated; to speculate from these data, published and unpublished, as to what the pathogenesis of FJGN may be; and to suggest further studies which may illuminate the problem in the future.

Keywords

Interstitial Nephritis Urate Crystal Crystal Deposition Disease Proximal Tubular Epithelium Urate Excretion 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    H. Duncan, A.StJ. Dixon. Gout, familial hyperuricaemia, and renal disease. Q J Med 29:127 (1960).PubMedGoogle Scholar
  2. 2.
    H.A. Simmonds, D.J. Warren, J.S. Cameron, C.F. Potter, D.A. Farebrother. Familial gout and renal failure in young women. Clin Nephrol 14:176 (1980).PubMedGoogle Scholar
  3. 3.
    G. Calabrese, H.A. Simmonds, J.S. Cameron, P.M. Davies. Precocious familial gout with reduced fractional urate excretion and normal purine enzymes. Q J. Med 75:441 (1990).PubMedGoogle Scholar
  4. 4.
    J.W. Foreman, M. Yudkoff. Familial hyperuricemia and renal insufficency. Child Nephrol Urol 10: 115 (1990).PubMedGoogle Scholar
  5. 5.
    F. Moro, C.S. Ogg, H.A. Simmonds, J.S. Cameron, C. Chantler, M.B. McBride, J.A. Duley, P.M. Davies. Familial juvenile gouty nephropathy with renal urate hypoexcretion precding renal disease. Clin Nephrol 35:263 (1991).PubMedGoogle Scholar
  6. 6.
    F. Moro, H.A. Simmonds, M.B. McBride, J.S. Cameron, D.G. Williams, C.S. Ogg. Does allopurinol ameliorate progression in familial juvenile gouty nephropathy (FJGN)? (this volume).Google Scholar
  7. 7.
    M.B. McBride, V. Raman, C.S. Ogg, C. Chantler, J.S. Cameron, J. Duley, H.A. Simmonds. A new kindred with familial juvenile gouty nephropathy (this volume).Google Scholar
  8. 8.
    N.G. Westberg, E. Rosen, J. Waidenstrom. Recessive X-linked hyperuricemia with gout and renal damage, normal activity of hypoxanthine-guanine ribosyl transferase and resistance to azaguanine. Acta Med Scand 205:163 (1979).PubMedCrossRefGoogle Scholar
  9. 9.
    W.J. Fessel. Renal outcomes of gout and hyperuricemia. Am J Med 67:74 (1979).PubMedCrossRefGoogle Scholar
  10. 10.
    M.J. Zmuda, A.J. Quebbemann. Localisation of the renal tubular uric acid defect in gouty chickens. Am J Physiol 229:820 (1975).PubMedGoogle Scholar
  11. 11.
    I. Akaoka, T.E. Nishizawa, N. Yano, Y. Kamatani, S. Nishida. S. Sasaki. Renal urate secretion in five cases of hypouricemia with an isolated renal defect of urate transport. J Rheumatol, 4:86 (1977).PubMedGoogle Scholar
  12. 12.
    M. Shichiri, H. Iwamoto, T. Shiigai. Hypouricemia due to increased tubular urate secretion. Nephron 45:31 (1987).PubMedCrossRefGoogle Scholar
  13. 13.
    A. Tykarski. Mechanism of hypouricemia in Hodgkin’s disease. Isolated defect in post secretory reabsorption of uric acid. Nephron 50:217(1988).PubMedCrossRefGoogle Scholar
  14. 14.
    E.G. Neilson, E. McCafferty, A. Feldman, M.D. Clayman, B. Zakheim, R. Korngold. Spontaneous interstitial nephritis in kd. kd mice I. A new model of autoimmune renal disease. J Immunol 119:1552 (1984).Google Scholar
  15. 15.
    C.J. Kelly, E.G. Neilson. Medullary cystic disease: an inherited form of autoimmune interstitial nephritis? Am J Kidney Dis 10:389 (1987).PubMedGoogle Scholar
  16. 16.
    J. Burke, J.A. Inglis, P. Craswell et al. Juvenile nephronophthisis and medullary cystic disease. Clin Nephrol 18:1 (1982).PubMedGoogle Scholar
  17. 17.
    H-Y. Lin, L.L. Rocher, M.A. McQillan, S. Schmaltz, T.D. Palella, I.H. Fox. Cyclosporine-induced hyperuricemia and gout. N Engl J Med 321: 287(1989).PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  1. 1.Purine Research LaboratoryLondonUK
  2. 2.Renal Unit Guy’s Campus UMDSLondonUK

Personalised recommendations