SciELO - Scientific Electronic Library Online

 
vol.50 número3Abuso y dependencia de internet: la epidemia y su controversia índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

Links relacionados

Compartir


Revista chilena de neuro-psiquiatría

versión On-line ISSN 0717-9227

Resumen

VARAS M, Carmen et al. Clinical guidelines: Chilean consensus in Fabry disease. Rev. chil. neuro-psiquiatr. [online]. 2012, vol.50, n.3, pp.191-201. ISSN 0717-9227.  http://dx.doi.org/10.4067/S0717-92272012000300009.

Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently, the growing knowledge about this disease has permitted the development of enzyme replacement therapy, which has modified the prognosis and quality of life of these patients. In Chile, the real incidence is unknown, but the increase in the number of patients diagnosed during the last five years, mainly in the north of the country. This guide was prepared with the intention of establishing a consensus for the diagnosis, treatment and monitoring of the patients with Fabry disease based on the present available scientific evidence.

Palabras clave : Fabry disease, alpha-galactosidase A; X-linked recessive inheritance; enzyme replacement therapy.

        · resumen en Español     · texto en Español     · Español ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons