Introduction: Fabry's disease is a consequence of the deficiency of lysosomal alpha-galactosidase A, which gives rise to excessive depositing of glycosphingolipids in endothelial cells, smooth muscle cells in vessels, podocytes, neurons, etc. The symptoms begin in childhood, with neuropathic pain, and progress towards kidney and heart failure, as well as cerebro-vascular accidents from the third decade of life onwards.
Development: This review presents the changes in the pathophysiological concepts that have been acquired in the nine years since enzyme replacement therapy started to be employed. The earlier enzyme replacement is started, the more effective it is, which thereby calls for a review of the criteria for its use in patients. Furthermore, the need for concomitant treatments is also evaluated based on the pathophysiology of the disease.
Conclusions: The joint use of enzyme replacement therapy, antiproteinuric drugs, statins and acetylsalicylic acid must be evaluated as initial treatment in all patients with Fabry's disease.
Background: Fabry disease is a rare X-linked multisystem disease, with progressive proteinuric kidney disease contributing significantly to morbidity and mortality of these patients. Evidence shows that sodium-glucose cotransporter 2 inhibitors (SGLT2Is) can reduce proteinuria and slow progression to end-stage kidney disease in both diabetic and non-diabetic kidney disease.
Aim: Evaluate the effects of SGLT2I on kidney function and albuminuria in patients with Fabry disease.
Background: Fabry disease (FD), an X-linked lysosomal disorder, is marked by a lack of alpha-galactosidase A (α-Gal A). Agalsidase beta, a recombinant form of α-Gal A, is fundamental to enzyme replacement therapy for FD but requires close monitoring for adverse events (AEs).
Research Design And Methods: This study retrospectively analyzed the Food and Drug Administration Adverse Event Reporting System (FAERS) database for agalsidase beta-related AEs.
Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A).
Background: Fabry disease is a rare genetic lysosomal storage disorder, whereby the accumulation of sphingolipids consequently leads to kidney structural damage and dysfunction. We explored the epidemiology of chronic kidney disease (CKD) among patients with Fabry disease at a major UK referral centre in Greater Manchester serving over 7 million people, to inform early predictors of kidney disease and possible treatment planning.
Methods: Data were sourced from the electronic records of registered participants from November 2020 to February 2022 of adults diagnosed with Fabry disease, with at least 1 year of follow-up.
Unlabelled: A 60-year-old woman with a recent history of presumed cardiogenic cerebral infarction was referred for surgical removal of a left ventricular mass. She was diagnosed with Fabry disease eight years before. Transthoracic echocardiography showed a mobile echogenic mass in the left ventricular apex.
