Néphrologie & Thérapeutique


Screening for Fabry disease in male patients with end-stage renal disease in western France Volume 17, issue 3, Etats des lieux dans l'HDF en 2022


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1 IntroductionFabry disease (FD; OMIM #301500) is a rare X-linked genetic disease due to pathogenic variants in the GLA gene coding for the lysosomal α-galactosidase A [1–3]. FD is characterized by glycosphingolipids accumulation [4] in renal glomerular, tubular and vascular cells, leading to end-stage renal disease (ESRD) in a subset of male and, more rarely, female patients. There is a cardiac and central nervous system component with hypertrophic cardiomyopathy, malignant arrhythmia, and strokes [...]