Nephropathy in Fabry disease: possibilities for the radical improvement of prognosis for orphan diseases


如何引用文章

全文:

详细

The paper discusses the specific features of the diagnosis and treatment of kidney involvement in patients with Fabry disease.

全文:

Нефропатия при болезни Фабри: возможности радикального улучшения прогноза при орфанных заболеваниях. - Аннотация. В статье обсуждаются особенности диагностики и лечения поражения почек при болезни Фабри.
×

参考

  1. Desnick R., Ioannou Y., Eng C. Alpha-Galactosidase A deficiency: Fabry disease. In: Scriver C.R., Sly W.S., Valle D. ed. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001: 3733-3774.
  2. Фомин В.В., Пулин А.А., Аксенова О.А. и др. Тяжелое поражение подоцитов, выявленное при электронной микроскопии почечного биоптата, у пациента с болезнью Фабри без выраженных изменений мочи и почечной недостаточности. Клин нефрол 2012; 1: 55-58.
  3. Kornreich R., Desnick R.J., Bishop D.F. Nucleotide sequence of the human alphagalactosidase A gene. Nucleic Acids Res 1989; 17: 3301-3302.
  4. Bishop D.F., Calhoun D.H., Bernstein H.S. et al. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci USA 1986; 83: 4859-4863.
  5. Germain D. Fabry disease. Orphanet J Rare Dis 2010:5(1):30.
  6. Elstein D., Schachamorov E., Beeri R., Altarescu G. X-inactivation in Fabry disease. Gene 2012; 505 (2): 266-268.
  7. Ortiz A., Cianciaruso B., Cizmarik M. et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant 2010; 25: 769-775.
  8. Ichinose M., Nakayama M., Ohashi T. et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 2005; 9 (3): 228-232.
  9. Schiffmann R., Warnock D.G., Banikazemi M. et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24: 2102-2111.
  10. Branton M.H., Schiffmann R., Sabnis S.G. et al. Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81: 122-138.
  11. West M., Nicholls K., Mehta A. et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009; 20: 1132-1139.
  12. Schiffmann R., Warnock D.G., Banikazemi M. et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24: 2102-2111.
  13. Whybra C., Miebach E., Mengel E. et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med 2009; 11: 441-449.
  14. Mehta A., West M.L., Pintos-Morell G. et al. Therapeutic goals in the treatment of Fabry disease. Genetic Med 2010; 12 (11): 713-720.
  15. Bekri S., Lidove O., Jaussaud R. et al. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem 2006; 4: 289-297.
  16. Ortiz A., Oliviero J.P., Waldek S. et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008; 23: 1600-1607.
  17. Warnock D.G., Ortiz A., Mauer M. et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012; 27 (3): 1042-1049.
  18. Fogo A.B., Bostad L., Svarstad E. et al. Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISFGN). Nephrol Dial Transplant 2010; 25 (7): 2168-2177.
  19. Najafian B., Mauer M., Hopkin R.J., Svarstad E. Renal complications of Fabry disease in children. Pediatr Nephrol 2013; 28 (5): 679-687.
  20. Pagni F., Pieruzzi F., Zannella S. et al. Possible pathogenetic relationship between Fabry disease and renal cell carcinoma. Am J Nephrol 2012; 36 (6): 537-541.
  21. Müller K.B., Galdieri L.C., Pereira V.G. et al. Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients. Genet Mol Biol 2012; 35 (2): 418-423.
  22. Lee M.H., Choi E.N., Jeon Y.J., Jung S.C. Possible role of transforming growth factor-Β1 and vascular endothelial growth factor in Fabry disease nephropathy. Int J Mol Med 2012; 30 (6): 1275-1280.
  23. Nakao S., Kodama C., Takenaka T. et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003; 64 (3): 801-807.
  24. Kotanko P., Kramar R., Devrnja D. et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15 (5): 1323-1329.
  25. Tanaka M., Ohashi T., Kobayashi M. et al. Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol 2005; 64 (4): 281-287.
  26. Kosch M., Koch H.G., Oliveira J.P. et al. Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease. Kidney Int 2004; 66: 1279-1282.
  27. Paull L.S., Lipinski M.J., Wilson W.G, Lipinski S.E. Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing. JIMD Rep 2012; 4: 1-4.
  28. Taneda S., Honda K., Nakajima I. et al. Renal transplantation between siblings with unrecognized Fabry disease. Transplant Proc 2013; 45 (1): 115-118.
  29. Eng C.M., Germain D.P., Banikazemi M. et al. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genetic Med 2006; 8 (9): 539-548.
  30. Mehta A., Ricci R., Widmer U. et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34: 236-242.
  31. Tøndel C., Bostad L., Larsen K.K. et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 2013; 24 (1): 137-148.
  32. Pisani A., Visciano B., Roux G.D. et al. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab 2012; 107 (3): 267-275.
  33. Tahir H., Jackson L.L., Warnock D.G. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 2007; 18: 2609 -2617.
  34. Levey A.S. Clinical practice. Nondiabetic kidney disease. N Engl J Med 2002; 347: 1505-1511.
  35. Cybulla M., Kurschat C., West M. et al. Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. J Nephrol 2012 Sep 19:0. doi: 10.5301/jn.5000214. [Epub ahead of print].
  36. Pastores G.M., Thadhani R. Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin Biol Ther 2002; 2: 325-333.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Consilium Medicum, 2013

Creative Commons License
此作品已接受知识共享署名-非商业性使用-相同方式共享 4.0国际许可协议的许可。
 

Address of the Editorial Office:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Correspondence address:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Managing Editor:

  • Tel.: +7 (926) 905-41-26
  • E-mail: e.gorbacheva@ter-arkhiv.ru

 

 © 2018-2021 "Consilium Medicum" Publishing house


##common.cookie##