La malattia di Fabry: una sindrome cardio-renale da malattia sistemica

Fulvio Floccari; Rodolfo Rivera; Moreno Malaguti; Alberto Santoboni; Vincenzo Barbera; Luca Di Lullo

doi:10.33393/gcnd.2013.1005

Authors

Fulvio Floccari Centro di Riferimento Regionale per la Nefrologia e la Dialisi “M. Biagini”, Civitavecchia (Roma)
Rodolfo Rivera UOC Nefrologia e Dialisi, Ospedale San Gerardo, Monza
Moreno Malaguti Centro di Riferimento Regionale per la Nefrologia e la Dialisi “M. Biagini”, Civitavecchia (Roma)
Alberto Santoboni UOC Nefrologia e Dialisi, Ospedale Parodi Delfino, Colleferro (Roma)
Vincenzo Barbera UOC Nefrologia e Dialisi, Ospedale Parodi Delfino, Colleferro (Roma)
Luca Di Lullo UOC Nefrologia e Dialisi, Ospedale Parodi Delfino, Colleferro (Roma)

DOI:

https://doi.org/10.33393/gcnd.2013.1005

Keywords:

Fabry disease, End stage renal disease, Cardiomyopathy, Arrhythmias, Pain

Abstract

Fabry disease is an inherited lysosomal storage disorder in which chronic accumulation of globotriaosylceramide (Gb3) induces renal, cardiac and neurological damage. Linked to chromosome X, it has an estimated incidence of one case every 55,000 male live births, up to one every 3,100. Enzyme replacement therapy is proposed as treatment of choice for this condition and is able to modify substantially the clinical history. This review is intended as a stimulus to look with the eyes of a “cardionephrologist” at this systemic cardiorenal syndrome. (Cardionephrology)