Screening of Fabry Disease of patients in renal replacement therapy in a population from Lazio (Italy).

G Marrone,R Angelico,M Di Lauro, E Sargentini,T M Manzia,G Tisone,A P Mitterhofer,D Della Morte Canosci,M Tesauro,N Di Daniele,A Noce

European review for medical and pharmacological sciences（2023）

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摘要

Considering the presence of an enzyme replacement therapy able to modify FD clinical history, it is essential to try to implement FD early diagnoses. However, the screening is too expensive to be extended on large scale, due to the low prevalence of the pathology. The screening should be performed on high-risk populations.

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关键词

Fabry disease, Renal replacement therapy, Kidney transplantation, End stage renal disease, Lysosomal storage disease, Alpha-galactosidase, Lyso-Gb3

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