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Нервно-мышечные болезни

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

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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

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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.

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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.


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.

For citation:


., . . Neuromuscular Diseases. 2015;5(3):10-14. (In Russ.)

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