Нефропатия при болезни Фабри: возможности радикального улучшения прогноза при орфанных заболеваниях - Журнал Терапевтический архив №6 Вопросы нефрологии 2013
Нефропатия при болезни Фабри: возможности радикального улучшения прогноза при орфанных заболеваниях
Фомин В.В., Пулин А.А., Мухин Н.А. Нефропатия при болезни Фабри: возможности радикального улучшения прогноза при орфанных заболеваниях. Терапевтический архив (архив до 2018 г.). 2013;85(6):4-9.
Материалы доступны только для специалистов сферы здравоохранения.
Чтобы посмотреть материал полностью
Авторизуйтесь
или зарегистрируйтесь.
Аннотация
В статье обсуждаются особенности диагностики и лечения поражения почек при болезни Фабри.
Ключевые слова: болезнь Фабри, орфанное заболевание, лизосомальная болезнь накопления, α-галактозидаза А, глико-сфинголипиды, глоботриаозилцерамид, нефропатия, хроническая болезнь почек, заместительная ферментная терапия.
Key words: Fabry disease, orphan disease, lysosomal storage disease, α-galactosidase A, glycosphingolipids, globotriaosylce-ramide, nephropathy, chronic kidney disease, enzyme replacement therapy.
Ключевые слова: болезнь Фабри, орфанное заболевание, лизосомальная болезнь накопления, α-галактозидаза А, глико-сфинголипиды, глоботриаозилцерамид, нефропатия, хроническая болезнь почек, заместительная ферментная терапия.
________________________________________________
Key words: Fabry disease, orphan disease, lysosomal storage disease, α-galactosidase A, glycosphingolipids, globotriaosylce-ramide, nephropathy, chronic kidney disease, enzyme replacement therapy.
Список литературы
- 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.
- 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.
- Kornreich R., Desnick R.J., Bishop D.F. Nucleotide sequence of the human alphagalactosidase A gene. Nucleic Acids Res 1989; 17: 3301-3302.
- 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.
- Germain D. Fabry disease. Orphanet J Rare Dis 2010:5(1):30.
- Elstein D., Schachamorov E., Beeri R., Altarescu G. X-inactivation in Fabry disease. Gene 2012; 505 (2): 266-268.
- 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.
- 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.
- 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.
- 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.
- West M., Nicholls K., Mehta A. et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009; 20: 1132-1139.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Najafian B., Mauer M., Hopkin R.J., Svarstad E. Renal complications of Fabry disease in children. Pediatr Nephrol 2013; 28 (5): 679-687.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Taneda S., Honda K., Nakajima I. et al. Renal transplantation between siblings with unrecognized Fabry disease. Transplant Proc 2013; 45 (1): 115-118.
- 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.
- 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.
- 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.
- 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.
- 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.
- Levey A.S. Clinical practice. Nondiabetic kidney disease. N Engl J Med 2002; 347: 1505-1511.
- 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].
- Pastores G.M., Thadhani R. Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin Biol Ther 2002; 2: 325-333.
Авторы
В.В. ФОМИН, А.А. ПУЛИН, Н.А. МУХИН
Первый МГМУ им. И.М. Сеченова Минздрава России
I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Первый МГМУ им. И.М. Сеченова Минздрава России
________________________________________________
I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia
Цель портала OmniDoctor – предоставление профессиональной информации врачам, провизорам и фармацевтам.
