Fabry's Disease: A Type 5 Cardiorenal Syndrome
DOI:
https://doi.org/10.33393/gcnd.2013.1005Keywords:
Fabry disease, End stage renal disease, Cardiomyopathy, Arrhythmias, PainAbstract
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)
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Authors contributing to Giornale di Clinica Nefrologica e Dialisi (GCND) agree to publish their articles under the CC-BY-NC 4.0 license, which allows third parties to re-use the work without permission as long as the work is properly referenced and the use is non-commercial.