Тяжелое поражение подоцитов, выявленное при электронной микроскопии почечного биоптата, у пациента с болезнью Фабри без выраженных изменений мочи и почечной недостаточности

Аннотация

Описано тяжелое поражение подоцитов у пациента с болезнью Фабри, не имеющего изменений мочи и с сохранной функцией почек

Список литературы

  1. Jefferson J.A., Nelson P.J., Najafian B. et al. Podocyte disorders: Core Curriculum 2011. Am. J. Kidney Dis. 2011; 58(4): 666-677.
  2. Fogo A.B., Bostad L., Svarstad E. et al.; all members of the International Study Group of Fabry Nephropathy (ISGFN). Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol. Dial. Transplant. 2010; 25(7): 2168-2177.
  3. Sessa A., Meroni M., Battini G. et al.; Studio Multicentrico Italiano sulla Malattia di Anderson-Fabry. Evolution of renal pathology in Fabry disease. Acta. Paediatr. Suppl. 2003; 92(443):6-8.
  4. Fischer E.G., Moore M.J., Lager D.J. Fabry disease: a morphologic study of 11 cases. Mod. Pathol. 19(10): 1295-1301.
  5. Sanchez-Niño M.D., Sanz A.B., Carrasco S. et al. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol. Dial. Transplant. 2011; 26(6): 1797-1802.
  6. Valbuena C., Carvalho E., Bustorff M. et al. Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. Virchows Arch. 2008; 453(4):329-338.
  7. Valbuena C., Oliveira J.P., Carneiro F. et al. Kidney histologic alterations in α-Galactosidase-deficient mice. Virchows Arch. 2011; 458(4): 477-486.
  8. Sessa A., Meroni M., Battini G. et al. Renal pathological changes in Fabry disease. J. Inherit. Metab. Dis. 2001;24(Suppl. 2): 66-70.
  9. Najafian B., Svarstad E., Bostad L. et al. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int. 2011; 79(6): 663-670.
  10. Asahi K., Katoh T., Watanabe K. et al. Fabry disease with few clinical signs and symptoms. Intern. Med. 2002; 41(11): 983-985.
  11. Meehan S.M., Junsanto T., Rydel J.J. et al. Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am. J. Kidney Dis. 2004; 43(1): 164-171.
  12. Christensen E.I., Zhou Q., Sørensen S.S. et al. Distribution of alpha-galactosidase A in normal human kidney and renal accumulation and distribution of recombinant alpha-galactosidase A in Fabry mice. J. Am. Soc. Nephrol. 2007; 18(3): 698-706.
  13. Thurberg B.L., Rennke H., Colvin R.B. et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002; 62(6): 1933-1946.
  14. Prabakaran T., Nielsen R., Larsen J.V. et al. Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease. PLoS One. 2011;6(9):e25065.
  15. Choi J.O., Lee M.H., Park H.Y. et al. Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer. J. Biomed. Sci. 2010; 17: 26.
  16. Germain D.P., Waldek S., Banikazemi M. et al. Sustained, long-term renal stabilization after 54 moths of agalsidase b therapy in patients with Fabry disease. J. Am. Soc. Nephrol. 2007; 18: 1547-1557.
  17. Wanner C., Oliveira J.P., Ortiz A. et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin. J. Am. Soc. Nephrol. 2010; 5(12): 2220-2228.
  18. Warnock D.G., Ortiz A., Mauer M. et al.; on behalf of the Fabry Registry. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2011 Jul 29. [Epub ahead of print].

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