Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press119LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫК вопросу о значимости дозировки препаратов в ферментозаместительной терапии при болезни ФабриWarnockD. G.
Russian Federation
MauerM.
Russian Federation
Department of Medicine, University of Alabama at Birmingham, Birmingham, AlabamaDepartments of Pediatrics and Medicine, University of Minnesota, Minneapolis, Minnesota210920155310142109201521092015Copyright ©; 2015, ., .Copyright ©; 2015, Warnock D.G., Mauer M.2015., .Warnock D.G., Mauer M.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/119

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.

болезнь Фабриболезни накоплениялизомальные болезниХ-сцепленная лизосомальная болезньглоботриаозил- церамидгликосфинголипидыкардиомиопатияпочечная недостаточностьмикроальбуминемияферментозаместительная терапияагалсидаза αРеплагал1. 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.