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Case Reports in Nephrology
Volume 2015 (2015), Article ID 257628, 4 pages
http://dx.doi.org/10.1155/2015/257628
Case Report

Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease

1Nephrology Service, Hospital Británico de Buenos Aires, Perdriel 74, 1280 Buenos Aires, Argentina
2Laboratory Services, Hospital Británico de Buenos Aires, Perdriel 74, 1280 Buenos Aires, Argentina
3IFIBIO Houssay, UBA CONICET, Facultad de Medicina, Universidad de Buenos Aires, Paraguay 2155, 1425 Buenos Aires, Argentina

Received 12 April 2015; Accepted 30 April 2015

Academic Editor: Kostas C. Siamopoulos

Copyright © 2015 H. Trimarchi et al. 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. R. J. Desnick, Y. A. Ioannou, and C. M. Eng, “α-Galactosidase A deficiency; Fabry disease,” in The Metabolic and Molecular Bases of Inherited Disease, C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds., pp. 3733–3774, McGraw-Hill, New York, NY, USA, 8th edition, 2001. View at Google Scholar
  2. C. Tøndel, L. Bostad, K. K. Larsen et al., “Agalsidase benefits renal histology in young patients with Fabry disease,” Journal of the American Society of Nephrology, vol. 24, no. 1, pp. 137–148, 2013. View at Publisher · View at Google Scholar · View at Scopus
  3. S. U. Vogelmann, W. J. Nelson, B. D. Myers, and K. V. Lemley, “Urinary excretion of viable podocytes in health and renal disease,” The American Journal of Physiology—Renal Physiology, vol. 285, no. 1, pp. F40–F48, 2003. View at Publisher · View at Google Scholar · View at Scopus
  4. D. G. Warnock, “Fabry disease: diagnosis and management, with emphasis on the renal manifestations,” Current Opinion in Nephrology and Hypertension, vol. 14, no. 2, pp. 87–95, 2005. View at Publisher · View at Google Scholar · View at Scopus
  5. M. H. Branton, R. Schiffmann, S. G. Sabnis et al., “Natural history of fabry renal disease: influence of α-galactosidase a activity and genetic mutations on clinical course,” Medicine, vol. 81, no. 2, pp. 122–138, 2002. View at Publisher · View at Google Scholar · View at Scopus
  6. D. Tsakiris, H. K. Simpson, E. H. Jones et al., “Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry,” Nephrology, Dialysis, Transplantation, vol. 11, pp. 4–20, 1996. View at Google Scholar · View at Scopus
  7. R. Thadhani, M. Wolf, M. L. West et al., “Patients with Fabry disease on dialysis in the United States,” Kidney International, vol. 61, no. 1, pp. 249–255, 2002. View at Publisher · View at Google Scholar · View at Scopus
  8. S. Nakao, C. Kodama, T. Takenaka et al., “Fabry disease: detection of undiagnosed hemodialysis patients and identification of a ‘renal variant’ phenotype,” Kidney International, vol. 64, no. 3, pp. 801–807, 2003. View at Publisher · View at Google Scholar · View at Scopus
  9. P. Kotanko, R. Kramar, D. Devrnja et al., “Results of a nationwide screening for Anderson-Fabry disease among dialysis patients,” Journal of the American Society of Nephrology, vol. 15, no. 5, pp. 1323–1329, 2004. View at Publisher · View at Google Scholar · View at Scopus
  10. H. Trimarchi, A. Karl, M. Raña et al., “Initially non-diagnosed Fabry’s disease when electronic microscopy is lacking: the continuing story of focal and segmental glomerulosclerosis,” Case Reports in Nephrology and Urology, vol. 3, no. 1, pp. 51–57, 2013. View at Publisher · View at Google Scholar
  11. H. Trimarchi, M. Forrester, F. Lombi et al., “Amiloride as an alternate adjuvant antiproteinuric agent in Fabry disease: the potential roles of plasmin and uPAR,” Case Reports in Nephrology, vol. 2014, Article ID 854521, 6 pages, 2014. View at Publisher · View at Google Scholar
  12. A. Ortiz, J. P. Oliveira, S. Waldek, D. G. Warnock, B. Cianciaruso, and C. Wanner, “Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy,” Nephrology Dialysis Transplantation, vol. 23, no. 5, pp. 1600–1607, 2008. View at Publisher · View at Google Scholar · View at Scopus
  13. M. D. Sanchez-Niño, A. B. Sanz, S. Carrasco et al., “Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy,” Nephrology Dialysis Transplantation, vol. 26, no. 6, pp. 1797–1802, 2011. View at Publisher · View at Google Scholar · View at Scopus
  14. M. C. Liebau, F. Braun, K. Höpker et al., “Dysregulated autophagy contributes to podocyte damage in Fabry’s disease,” PLoS ONE, vol. 8, no. 5, Article ID e63506, 2013. View at Publisher · View at Google Scholar · View at Scopus
  15. B. Najafian, E. Svarstad, L. Bostad et al., “Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease,” Kidney International, vol. 79, no. 6, pp. 663–670, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. B. L. Wharram, M. Goyal, J. E. Wiggins et al., “Podocyte depletion causes glomerulosclerosis: diphtheria toxin-induced podocyte depletion in rats expressing human diphtheria toxin receptor transgene,” Journal of the American Society of Nephrology, vol. 16, no. 10, pp. 2941–2952, 2005. View at Publisher · View at Google Scholar · View at Scopus
  17. H. Trimarchi, “Primary focal and segmental glomerulosclerosis and suPAR: Where do we stand and where are we heading to?” World Journal of Nephrology, vol. 2, pp. 103–110, 2013. View at Google Scholar
  18. K. Utsumi, K. Itoh, R. Kase et al., “Urinary excretion of the vitronectin receptor (integrin αVβ3) in patients with Fabry disease,” Clinica Chimica Acta, vol. 279, no. 1-2, pp. 55–68, 1999. View at Publisher · View at Google Scholar