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International Journal of Nephrology
Volume 2011 (2011), Article ID 929456, 6 pages
http://dx.doi.org/10.4061/2011/929456
Review Article

The History of Cystinosis: Lessons for Clinical Management

1Department of Pediatrics, McGill University, Montreal, QC, Canada H3H 1P3
2Montreal Children’s Hospital, 2300 Tupper Street, Montreal, QC, Canada H3H 1P3

Received 6 June 2011; Accepted 1 August 2011

Academic Editor: Michel Fischbach

Copyright © 2011 Paul Goodyer. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. E. Aberhalden, “Familiäre cystindiathese,” Hoppe-Seylers Zeitschrift für Physiologische Chemie, vol. 38, pp. 557–561, 1903. View at Google Scholar
  2. G. O. E. Lignac, “Uber storung des cystinstoffwechsels bei kindern,” Deutsches Archiv für klinische Medizin, vol. 145, pp. 139–150, 1924. View at Google Scholar
  3. G. Fanconi, “Die nicht diabetischen glykosurien und hyperglykaemien des aelteren kindes,” Jahrbuch Kinderheilkunde, vol. 133, pp. 257–300, 1931. View at Google Scholar
  4. D. Toni, “Remarks on the relations between rickets (renal dwarfism) and renal diabetes,” Acta pædiatrica, vol. 16, pp. 479–484, 1933. View at Google Scholar
  5. R. M. J. Debre, F. Cleret, and R. Messimy, “Rachitisme tardif coexistant avec une néphrite chronique et une glycosurie,” Archives de Médecine des Enfants, vol. 37, pp. 597–606, 1934. View at Google Scholar
  6. G. Fanconi, “Der frühinfantile nephrotisch-glycosurische Zwergwuchs mit hypophosphatämischer Rachitis,” Jahrbuch für Kinderheilkunde, vol. 147, pp. 299–318, 1936. View at Google Scholar
  7. C. E. Dent, “The amino-aciduria in Fanconi syndrome; a study making extensive use of techniques based on paper partition chromatography,” The Biochemical Journal, vol. 41, no. 2, pp. 240–253, 1947. View at Google Scholar
  8. R. D. Clay, E. M. Darmady, and M. Hawkins, “The nature of the renal lesion in the Fanconi syndrome,” The Journal of Pathology and Bacteriology, vol. 65, no. 2, pp. 551–558, 1953. View at Google Scholar · View at Scopus
  9. M. J. Wilmer, J. P. Schoeber, L. P. van den Heuvel, and E. N. Levtchenko, “Cystinosis: practical tools for diagnosis and treatment,” Pediatric Nephrology, vol. 26, no. 2, pp. 205–215, 2011. View at Publisher · View at Google Scholar · View at Scopus
  10. M. Greco, M. Brugnara, M. Zaffanello, A. Taranta, A. Pastore, and F. Emma, “Long-term outcome of nephropathic cystinosis: a 20-year single-center experience,” Pediatric Nephrology, vol. 25, no. 12, pp. 2459–2467, 2010. View at Publisher · View at Google Scholar · View at Scopus
  11. H. Bickel and J. M. Smellie, “Cystine storage disease with amino-aciduria,” The Lancet, vol. 259, no. 6718, pp. 1093–1095, 1952. View at Publisher · View at Google Scholar · View at Scopus
  12. S. M. Bonsib and F. Horvath Jr., “Multinucleated podocytes in a child with nephrotic syndrome and Fanconi's syndrome: a unique clue to the diagnosis,” American Journal of Kidney Diseases, vol. 34, no. 5, pp. 966–971, 1999. View at Google Scholar
  13. M. Chandra, M. B. Stokes, and F. Kaskel, “Multinucleated podocytes: a diagnostic clue to cystinosis,” Kidney International, vol. 78, no. 10, p. 1052, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. V. Langlois, P. Goodyer, D. Geary, L. Murray, S. Champoux, and D. Hébert, “Polyuria and proteinuria in cystinosis have no impact on renal transplantation: a report of the North American Pediatric Renal Transplant Cooperative Study,” Pediatric Nephrology, vol. 15, no. 1-2, pp. 7–10, 2000. View at Google Scholar · View at Scopus
  15. P. Royer, “Néphropathies secondaires ou associées a des maladies héréditaires,” in Néphrologie Pédiatrique, P. Royer., R. Habib, H. Mathieu, and M. Broyer, Eds., pp. 79–89, Paris Flammarion Médecine-Sciences, 1973. View at Google Scholar
  16. C. P. Mahoney, G. E. Striker, R. O. Hickman, G. B. Manning, and T. L. Marchioro, “Renal transplantation for childhood cystinosis,” The New England Journal of Medicine, vol. 283, no. 8, pp. 397–402, 1970. View at Google Scholar · View at Scopus
  17. W. A. Gahl, F. Tietze, and N. Bashan, “Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes,” The Journal of Biological Chemistry, vol. 257, no. 16, pp. 9570–9575, 1982. View at Google Scholar · View at Scopus
  18. R. Steinherz, F. Tietze, and W. A. Gahl, “Cystine accumulation and clearance by normal and cystinotic leukocytes exposed to cystine dimethyl ester,” Proceedings of the National Academy of Sciences of the United States of America, vol. 79, no. 14, pp. 4446–4450, 1982. View at Google Scholar · View at Scopus
  19. R. Steinherz, F. Tietze, and T. Triche, “Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester,” The New England Journal of Medicine, vol. 306, no. 24, pp. 1468–1470, 1982. View at Google Scholar · View at Scopus
  20. R. Steinherz, F. Tietze, and D. Raiford, “Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes,” The Journal of Biological Chemistry, vol. 257, no. 11, pp. 6041–6049, 1982. View at Google Scholar · View at Scopus
  21. A. J. Jonas, M. L. Smith, and J. A. Schneider, “ATP-dependent lysosomal cystine efflux is defective in cystinosis,” The Journal of Biological Chemistry, vol. 257, no. 22, pp. 13185–13188, 1982. View at Google Scholar · View at Scopus
  22. A. J. Jonas, A. A. Greene, M. L. Smith, and J. A. Schneider, “Cystine accumulation and loss in normal, heterozygous, and cystinotic fibroblasts,” Proceedings of the National Academy of Sciences of the United States of America, vol. 79, no. 14, pp. 4442–4445, 1982. View at Google Scholar · View at Scopus
  23. A. D. Patrick and B. D. Lake, “Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph node,” Journal of Clinical Pathology, vol. 21, no. 5, pp. 571–575, 1968. View at Google Scholar · View at Scopus
  24. J. G. Thoene, R. G. Oshima, and J. C. Crawhall, “Intracellular cystine depletion by aminothiols in vitro and in vivo,” The Journal of Clinical Investigation, vol. 58, no. 1, pp. 180–189, 1976. View at Google Scholar · View at Scopus
  25. W. A. Gahl, L. Charnas, T. C. Markello, I. Bernardini, K. G. Ishak, and M. C. Dalakas, “Parenchymal organ cystine depletion with long-term cysteamine therapy,” Biochemical Medicine and Metabolic Biology, vol. 48, no. 3, pp. 275–285, 1992. View at Publisher · View at Google Scholar · View at Scopus
  26. T. C. Markello, I. M. Bernardini, and W. A. Gahl, “Improved renal function in children with cystinosis treated with cysteamine,” The New England Journal of Medicine, vol. 328, no. 16, pp. 1157–1162, 1993. View at Publisher · View at Google Scholar · View at Scopus
  27. W. A. Gahl, J. Z. Balog, and R. Kleta, “Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy,” Annals of Internal Medicine, vol. 147, no. 4, pp. 242–250, 2007. View at Google Scholar · View at Scopus
  28. R. Dohil, M. Fidler, J. A. Gangoiti, F. Kaskel, J. A. Schneider, and B. A. Barshop, “Twice-daily cysteamine bitartrate therapy for children with cystinosis,” The Journal of Pediatrics, vol. 156, no. 1, pp. 71–75.e3, 2010. View at Publisher · View at Google Scholar · View at Scopus
  29. G. Nesterova and W. Gahl, “Nephropathic cystinosis: late complications of a multisystemic disease,” Pediatric Nephrology, vol. 23, no. 6, pp. 863–878, 2008. View at Publisher · View at Google Scholar · View at Scopus
  30. B. C. Sonies, P. Almajid, R. Kleta, I. Bernardini, and W. A. Gahl, “Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy,” Medicine, vol. 84, no. 3, pp. 137–146, 2005. View at Publisher · View at Google Scholar · View at Scopus
  31. D. A. Trauner, A. M. Spilkin, J. Williams, and L. Babchuck, “Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function,” The Journal of Pediatrics, vol. 151, no. 2, pp. 192–196, 2007. View at Publisher · View at Google Scholar · View at Scopus
  32. A. J. Jonas, S. B. Conley, R. Marshall, R. A. Johnson, M. Marks, and H. Rosenberg, “Nephropathic cystinosis with central nervous system involvement,” The American Journal of Medicine, vol. 83, no. 5, pp. 966–970, 1987. View at Google Scholar · View at Scopus
  33. M. Broyer, M. J. Tête, G. Guest, J. P. Berthélémé, F. Labrousse, and M. Poisson, “Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine,” Journal of Inherited Metabolic Disease, vol. 19, no. 1, pp. 65–75, 1996. View at Publisher · View at Google Scholar · View at Scopus
  34. K. Syres, F. Harrison, M. Tadlock et al., “Successful treatment of the murine model of cystinosis using bone marrow cell transplantation,” Blood, vol. 114, no. 12, pp. 2542–2552, 2009. View at Publisher · View at Google Scholar · View at Scopus