Summary
Cystinuria is an inherited condition affecting the active transport of the diamino acids cystine, ornithine, lysine and arginine across the renal tubule and the small intestine. The only clinical effect is the production of urinary tract stones and if these can be prevented the affected individuals can lead a normal life. In many people cystine stones can be dissolved and new stone formation prevented by a high fluid intake, but if this does not succeed regular treatment with penicillamine will do so. Although many side-effects have been described with penicillamine treatment it is rare for them to be severe enough to prevent its use in patients with cystinuria. Since the clinical effects of cystinuria can be prevented by either a high fluid intake or by penicillamine it is important to make the diagnosis in affected individuals as soon as possible and cystinuria should therefore be considered in all people (regardless of age) who form urinary stones.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Bartels, Prof. (1863). Ein Fall Von Cystinurie.Archiv fur Pathologische Anatomie und Physiologie und Klinische Medicin. Cited in Renander, A. 1941
Baudrimont, A. and Malaguti. Recherches sur la cystine.Comptes Rendue de l'Academie de Sciences, Paris 5 (1837) 394
Baumann, E. (1883). Uber Cystin and Cystein.Z. Physiol. Chemie. 8, 299. Cited in Renander, A. 1941
Berzelius, J. J.Larobok i Kemien 6 (1830) 479. Cited in Renander, A. 1941
Bostrom, H. and Hambraeus, L. Cystinuria in Sweden VII.Acta Med. Scand. Suppl. 411 (1964) 1–128
Brand, E., Harris, M. M. and Biloon, S. Cystinuria.J. Biol. Chem. 86 (1930) 315–331
Civiale, J. Memoire sur les calculs de cystine.Compte Seances l'Acad. Sci. 6 (1838) 897–898
Cox, B. D. and Cameron, J. S. Homoarginine in cystinuria.Clin. Sci. Mol. Med. 46 (1974) 173–182
Cramer, E. (1865). Untersuchung uber die Bestandtheile der Seide.Jahresbericht Uber die Fortschritte der Chemie. 653. Cited in Renander, A. 1941
Crawhall, J. C., Scowen, E. F. and Watts, R. W. E. Effect of penicillamine on cystinuria.Br. Med. J. 1 (1963) 588–590
Crawhall, J. C., Scowen, E. F. and Watts, R. W. E. Further observations on use of D-penicillamine in cystinuria.Br. Med. J. 1 (1964) 1411–1413
Crawhall, J. C., Saunders, E. P. and Thompson, C. J. Heterozygotes for cystinuria.Ann. Hum. Gen. 29 (1966) 257–269
Crawhall, J. C., Scowen, E. F., Thompson, C. J. and Watts, R. W. E. Dissolution of cystine stones duringd-penicillamine treatment of a pregnant patient with cystinuria.Br. Med. J. (1967) 216–218
Dent, C. E. and Rose, G. A. Amino acid metabolism in cystinuria.Q. J. Med. N.S. XX (1951) 205–219
Dent, C. E. and Senior, B. Studies on the treatment of cystinuria.Br. J. Urol. 27 (1955) 317–332
Dent, C. E., Friedman, M., Green, H. and Watson, L. C. A. Treatment of cystinuria.Br. Med. J. 1 (1965) 403–408
Friedmann, E. Beitrage zur Kenntnis der physiologischen Beziehungen der schwefelhaltigen Eiweissabkommlinge. I. Mitt Uber die Konstitution des Cystins.Beitrage zur Chemischen Physiologie u Pathologie 3 (1903) 1. Cited in Renander, A. 1941
Frimpter, G. W. Medical management of cystinuria.Am. J. Med. Sci. 255 (1968) 348–357
Gaches, C. G. C., Gordon, I. R. S., Shore, D. F. and Roberts, J. B. M. Urinary lithiasis in childhood in the Bristol clinical area.Br. J. Urol. 47 (1975) 109–116
Garrod, A. E. Inborn errors of metabolism (Croonian Lectures).Lancet 1 (1908) 1–7; 73–79; 142–148; 214–220
Gibbs, D. A. and Watts, R. W. E. Studies on the effect ofd-penicillamine andN-acetyl-d-penicillamine on the excretion of some tryptophan metabolites in patients with cystinuria.Clin. Sci. 36 (1969) 87–97
Gmelin, L.Handbuch der Chemie (1852). Cited in Renander, A., 1941
Harris, H., Mittwoch, U., Robson, E. B. and Warren, F. L. The pattern of amino acid excretion in cystinuria.Ann. Hum. Gen. 19 (1955a) 196–208
Harris, H., Mittwoch, U., Robson, E. B. and Warren, F. L. Phenotypes and genotypes in cystinuria.Ann. Hum. Gen. 20 (1955b) 1–35
Herring, L. C. Observations on the analysis of ten thousand urinary calculi.J. Urol. 88 (1962) 545–562
King, J. S. and Boyce, W. H. Effect of penicillamine on cystinuria.Invest. Urol. 2 (1965) 595–597
Klemperer, G. and Jacoby, M. Zur Behandlung der Cystinurie.Therapie der Gegewart 55 (1914) 101. Cited in Renander, A., 1941
Lotz, M. and Potts, J. T. Quantitation of the effects of penicillamine therapy in cystinuria.J. Clin. Invest. 43 (1964) 1293
Lotz, M., Potts, J. T. and Bartter, F. C. Recent advances in therapy in cystinuria.Military Med. 130 (1965) 768–774
McDonald, J. E. and Henneman, P. H. Stone dissolution in vivo and control of cystinuria withd-penicillamine.N. Eng. J. Med. 273 (1965) 578–583
Magendie, F. Recherches physiologiques et medicales sur les causes, les symptoms et le traitment de la gravelle. Paris (1828). Cited in Renander, A., 1941
Marcet, A.An Essay on the Chemical History and Medical Treatment of Calculous Disorders, Chap. 3, pp. 79–88. Longman, Hurst, Rees, Orme and Brown, London, 1817
Morner, C. T. Utredning av vadihitintills kant ar om cystinuri inom vart land. II.Uppsala Lakareforenings Forhandlingar, 31 (1925) 171–191. Cited in Renander, A., 1941
Neuberg, C. Uber cysteine. I.Berichte der Deutschen Chemischen Gesellschaft 35 (1902) 3161. Cited in Renander, A., 1941
Niemann, A. Beitrage zur Lehre von der Cystinurie beim Menschen.Deutsches Archiv fur klinische Medizin 18 (1876) 232. Cited in Renander, A., 1941
Prout, W. Analyse vershiedener animalischer Substanzen.Journal fur Chemie und Physik (Schwigger's) 28 (1820) 181. Cited in Renander, A., 1941
Prout, W.Traite de la Gravelle, p. 278, Paris (1823). Cited in Renander, A., 1941
Prout, W.An Inquiry into the Nature and Treatment of Diabetes, Calculus and Other Affections of the Urinary Organs, 2nd edn., pp. 163–169. Baldwin, Craddock, and Joy, London, 1825
Renander, A. The roentgen density of the cystine calculus.Acta Radiol. Suppl. 41 (1941) 1–148
Stein, W. H. Excretion of amino acids in cystinuria.Proc. Soc. Exp. Biol. NY 78 (1951) 705–708
Stephens, A. D. and Watts, R. W. E. The treatment of cystinuria withN-acetyl-d-penicilla-mine, a comparison with the results ofd-penicillamine treatment.Q. J. Med. N.S., XL (1971) 355–370
Stokes, G. S., Potts, J. T., Lotz, M. and Bartter, F. C. New agent in the treatment of cystinuria:N-acetyl-d-penicillamine.Br. Med. J. 1 (1968a) 284–288
Stokes, G. S., Potts, J. T., Lotz, M. and Bartter, F. C. Mechanisms of action ofd-penicillamine andN-acetyl-d-penicillamine in the therapy of cystinuria.Clin. Sci. 35 (1968b) 467–477
Stromeyer. Oxide cystique.Annales de Chimie et de Physique 27 (1824) 221
Thaulow, C. J. Sur la composition de la cystine.J. Pharm. 24 (1838) 629–632
Toel, F. (1855). Beobachtungen uber Cystinebildung.Ann. Chem. Pharm. 96 (1855) 247. Cited in Renander, A. 1941
Venables, R. On the ‘cystic oxide’ calculus.Q. J. Sci., Literature and Art 29 (1830) 30–40
White, D. R. An analysis of the Z-dependence of photon and electron interactions.Phys. Med. Biol. 22 (1977) 219–228
White, D. R. and Fitzgerald, M. (1977). Calculated attentuation and energy absorption coefficients for ICRP reference man (1975) organs and tissues.Health Phys. 33 (1977) 73–81
Williams, G. and Chisholm, G. D. Stone screening and follow up are necessary?Br. J. Urol. 47 (1976) 745–750
Wollaston, W. H. On cystic oxide, a new species of urinary calculus.Phil. Trans. Royal Soc. London 100 (1810) 223–230
Yeh, H. L., Frankl, W., Dunn, M. S., Parker, P., Hughes, B. and Gyorgy, P. The urinary excretion of amino acids by a cystinuric subject.Am. J. Med. Sci. 214 (1947) 507–512
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Stephens, A.D. Cystinuria and its treatment: 25 years experience at St. Bartholomew's hospital. J Inherit Metab Dis 12, 197–209 (1989). https://doi.org/10.1007/BF01800726
Issue Date:
DOI: https://doi.org/10.1007/BF01800726