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Нервно-мышечные болезни

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К вопросу о значимости дозировки препаратов в ферментозаместительной терапии при болезни Фабри

Аннотация

Болезнь Фабри (БФ) – X-сцепленное заболевание, обусловленное мутациями в гене, кодирующем лизосомальную гидролазу α-галактозидазу А, при котором происходит прогрессирующее накопление в лизосомах глоботриаозилцерамида и связанных гликосфинголипидов. У пациентов мужского пола с классическим фенотипом болезни заболевание клинически манифестирует в детском или подростковом возрасте и характеризуется несколькими симптомами, в том числе нарушением почечной функции, цереброваскулярными осложнениями, сердечной недостаточностью и в конечном счете преждевременной смертью.

Об авторах

D. G. Warnock
Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama
Россия


M. Mauer
Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, Minnesota
Россия


Список литературы

1. Desnick R.J., Ioannou Y.A., Eng C.M. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic Bases of Inherited Disease. Ed. by Scriver C., Beaudet A., Sly W., Valle D., 8th еd., New York: McGraw-Hill, 2001. Pp. 3733–74.

2. Branton M.H., Schiffmann R. Sabnis S.G. et al. Natural history of Fabry renal disease: Influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002;81: 122–38.

3. Ortiz A., Oliveira J.P., Waldek S. et al. Fabry Registry: Nephropathy in males and females with Fabry disease: Cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008;23:1600–7.

4. Eng C.M., Guffon N., Wilcox W.R. et al. International Collaborative Fabry Disease Study Group: Safety and efficacy of recombinant human alphagalactosidase A—replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16.

5. Schiffmann R., Kopp J.B., Austin H.A. et al. Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 2001;285:2743–9.

6. Schiffmann R., Ries M., Timmons M., Flaherty J.T., Brady R.O. Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006;21:345–54.

7. Banikazemi M., Bultas J., Waldek S. et al. Fabry Disease Clinical Trial Study Group: Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med 2007;146:77–86.

8. Germain D.P., Waldek S., Banikazemi M. et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547–57.

9. 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;18:2609–17.

10. Desnick R.J. Enzyme replacement therapy for Fabry disease: Lessons from two alphagalactosidase A orphan products and one FDA approval. Expert Opin Biol Ther 2004;4: 1167–76.

11. Linthorst G.E., Hollak C.E., Donker- Koopman W.E. et al. Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004;66:589–95.

12. Schiffmann R., Askari H., Timmons M. et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 2007;18:1576–83.

13. Fervenza F.C., Torra R., Warnock D.G. Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease. Biologics 2008;2:823–43.

14. Weidemann F., Krämer J., Duning T. et al. Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J Am Soc Nephrol 2014;25: xx–xx.

15. Tsuboi K., Yamamoto H. Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal). Genet Med 2012;14:779–86.

16. Pisani A., Spinelli L., Visciano B. et al. Effects of switching from agalsidase beta to agalsidase alfa in 10 patients with Anderson-Fabry disease. JIMD Rep 2013;9:41–8.

17. 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: 663–70.

18. Kanai T., Yamagata T., Ito T. et al. Foot process effacement with normal urinalysis in classic Fabry disease. JIMD Rep 2011;1: 39–42.

19. 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;24:2102–11.

20. 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;5:2220–8.

21. 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;27:1042–9.

22. Tøndel C., Bostad L., Larsen K.K. et al. Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 2013;24:137–48.

23. Prabakaran T., Birn H., Bibby B.M. et al. Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease [published online ahead of print November 8, 2013]. Nephrol Dial Transplant. doi:10.1093/ndt/gft452J.


Рецензия

Для цитирования:


Warnock D.G., Mauer M. К вопросу о значимости дозировки препаратов в ферментозаместительной терапии при болезни Фабри. Нервно-мышечные болезни. 2015;5(3):10-14.

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ISSN 2222-8721 (Print)
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