Summary
Two patients with coexistent Down's syndrome and gout are described. Although increased serum urate levels are frequently reported in Down's syndrome, only a few such patients have been described with concomitant gout. In our patients no significant alterations of the purine salvage pathway were found, and the turnover parameters of uric acid, determined by means of a14C-labeled uric acid study, were consistent with the metabolic findings observed in normoexcretor gouty patients.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Fuller, R.W., Luce, M.W., Mertz, E.T. Serum uric acid in mongolism. Science, 1962, 137, 868–869.
Mertz, E.T., Fuller, R.W., Concon, J.M. Serum uric acid in young mongoloids. Science, 1963, 141, 535.
Appleton, M.D., Heab, W., Casey, P.J., Castellino, F., Schor, J.M., Miroglia, R.J. Role of vitamin A in gammaglobulin biosynthesis and uric metabolism of mongoloids. Am J Ment Defic, 1964, 69, 324–327.
Chapman, M.J., Stern, J. Uric acid in Down's disease. J Ment Defic Res, 1965, 8, 118–124.
Goodman, H.G., Lofland, H.B., Thomas, J.J. Serum uric acid levels in mongolism. Am J Ment Defic, 1966, 71, 437–446.
Kaufman, J.M., O'Brien, M.W. Hyperuricemie in mongolism. N Engl J Med, 1967, 276, 953–956.
Coburn, S.P., Seidenberg, M., Mertz, E.T. Clearance of uric acid, urea and creatinine concentration in Down's syndrome. J Appl Physiol, 1967, 23, 579–580.
Cayla, J., Rondier, J., Auscher, C., Perreau, C., De Gery, A. Goutte et mongolisme. A propos d'une observation. Rev. Rheum. 1974, 41, 203–207.
Appleton, M.D., Haab, W., Burti, U., Orsulak, P.J. Plasma urate levels in mongolism. Am J Ment Defic, 1969, 74, 196–199.
Nischida, Y., Akaoka, I., Nishizawa, T. A case of gouty arthritis associated with Down's syndrome. J Ment Defic Res, 1976, 20, 277–283.
Cartier, P., Hamet, M. Les activités purines phosphoribosyl-transférase dans les globules rouges humains. Techniques du dosage. Clin Chim Acta, 1968, 20, 205–210.
Pasero, G., Ciompi, M.L. Il Fosforibosil-pirofosfato (PRPP) nella biosintesi purinica. Gazz San 1974, 45, 118–121.
Bianchi, R., Vitali, C., Clerico, A., Pilo, A., Riente, L., Fusani, L., Mariani, G. Uric acid metabolism in normal subjects and in gouty patients by chromathographic measurement of C14 uric acid in plasma and urine. Metabolism, 1979, 28, 1105–1113.
Rescigno, A., Gurpide, E. Estimation of average times of residence recycle, and interconversion of blood-borne compounds using tracer methods. J Clin Endocrinol Metab, 1973, 36, 263–276.
Bianchi, R., Zucchelli, G.C., Giannessi, D., Pilo, A., Mariani, G., Carpi, A., Toni, M.G., Cazzuola, F. Evaluation of triiodiothyronine (T3) kinetics in normal subjects, in hypothyroid, and hyperthyroid patients using specific antiserum for the determination of labeled T3 in plasma. J Clin Endocrinol Metab, 1978, 46, 203–214.
Tada, K., Uesaki, T., Isshiki, G. Activities of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in erythrocytes from patients with Down's syndrome. Tohoku J Exp Med, 1972, 108, 197–198.
Fox, I.H., Kelley, W.N. Pharmacological alterations of intra cellular phosphoribosylphosphate (PP-ribose-P) in human tissues. In Advances in Experimental Medicine and Biology. Editor: Sperling O. De Vries A., Wyngaarden J.B. Plenum Press. New York, 1974, 93–99.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ciompi, M.L., Bazzichi, L.M., Bertolucci, D. et al. Uric acid metabolism in two patients with coexistent Down's syndrome and gout. Clin Rheumatol 3, 229–233 (1984). https://doi.org/10.1007/BF02030760
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02030760