Gastón Julio Piñeiro

Abstract Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and systemic glycosphingolipid accumulation. Diagnosis remains challenging because of the marked clinical heterogeneity and the frequent delay between symptom onset and definitive diagnosis. This multicenter study performed molecular analysis of the GLA gene in 260 high-risk individuals across Spain between 2002 and 2020.

Introduction Renal function has been linked to cardiovascular diseases, including atrial fibrillation (AF), stroke, myocardial infarction, and heart failure. Chronic kidney disease, often characterized by low estimated glomerular filtration rate (eGFR), is strongly associated with the risk of these cardiovascular diseases (1, 2). In addition to low eGFR, abnormally high eGFR has also been linked to various health conditions.