Fabry Nephropathy: An Evidence-Based Narrative Review.

Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency. A correct diagnosis of FD, although challenging, has considerable implications regarding treatment, management, and counseling. The diagnosis may be confirmed by demonstrating the enzyme deficiency in males and by identifying the specific GLA gene mutation in male and female patients. Treatment with enzyme replacement therapy, as part of the therapeutic strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline, particularly in the early stages of the disease. Emergent treatments for FD include the recently approved chaperone molecule migalastat for patients with amenable mutations. The objective of this report is to provide an updated overview on Fabry nephropathy, with a focus on the most relevant aspects of its epidemiology, diagnosis, pathophysiology, and treatment options.S

Challenge B: Human sciences in transition scenarios

Coordinators: Josep Martí Pérez (IMF, CSIC), Idoia Murga Castro (IH, CSIC).This challenge is formulated in terms of “humanities in transition,” that is, their approach and articulation in the face of the changes they must undergo to achieve the social weight that, due to their intrinsic relevance, should correspond to them. Faced with these situations that would demand a reinforcement in research and dissemination in diverse aspects of the humanities, from multiple perspectives, paradoxically an adverse panorama is drawn for the development and dissemination of humanistic knowledge, which concerns different factors. Some are related to the consideration of the area of knowledge itself, its organization within the scientific system, the questioning of its own limits, and the interaction with another knowledge. Considering current transition scenarios does not mean having to abandon old objectives, but it adds to the work conducted new objects of study closely related to current reality, such as: the informational revolution; the relations with the ecosystem and the environmental crisis; globalization; the intensification of human mobility and migration flows; the growing economic and social inequality; the frictions derived from the articulation of collective identities; the decolonization of discourses; demographic dynamics; integration of technological advances; and viability and support for alternative models of society.Peer reviewe

Aprendizaje semipresencial y aula invertida en asignaturas del Grado en Biología

Depto. de Biodiversidad, Ecología y EvoluciónFac. de Ciencias BiológicasFALSEsubmitte

Fabry nephropathy: an evidence-based narrative review

Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency. A correct diagnosis of FD, although challenging, has considerable implications regarding treatment, management, and counseling. The diagnosis may be confirmed by demonstrating the enzyme deficiency in males and by identifying the specific GLA gene mutation in male and female patients. Treatment with enzyme replacement therapy, as part of the therapeutic strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline, particularly in the early stages of the disease. Emergent treatments for FD include the recently approved chaperone molecule migalastat for patients with amenable mutations. The objective of this report is to provide an updated overview on Fabry nephropathy, with a focus on the most relevant aspects of its epidemiology, diagnosis, pathophysiology, and treatment options