Nuevas perspectivas terapéuticas en la enfermedad de Fabry

• Autores: Eduard Fort Casamartina, M. Sora Ortega, Joan Torras Ambros, Ramón José Jódar Masanés
• Localización: Atención Farmacéutica, ISSN 1139-7357, Vol. 5, Nº. 3, 2003, págs. 168-177
• Idioma: español
• Títulos paralelos:
  • New therapeutic perspectives on Fabry's disease
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• Resumen

  • Fabry's disease is a genetic disease linked to the X chromosome in which a glycosphingolipid, globotriaosylceramide (Gb3), is accumulated in different areas of the body like the myocardium, the kidney, the central nervous system and the vascular cells, due to an enzymatic deficit of a-galactosidase. Clinical evidence differs depending on patient's age and sex. To date, the treatment of this disease has been symptomatic with antiepileptic drugs, antihypertensive drugs and antiaggregating platelet agents. In advanced phases of the disease, patients may require hemodialysis sessions and, even, a renal transplant. Recently, the commercialization of a-galactosidase may suppose an advance in therapy against this disease and an improvement on the patients' quality of living. In the future, new therapeutic alternatives like the genic therapy and substrate elimination may be readily available