Refractory nephrotic syndrome in focal and segmental glomerulosclerosis by pmm2 genetic variant
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Fecha
2025
Autores
Dulce M., Jaime Arturo
Conde, Juan
Aroca, Gustavo
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International Society of Nephrology (ISN)
Resumen
Introduction: Nephrotic syndrome (NS) is a clinical condition charac terized by massive proteinuria, edema, hypoalbuminemia, and hyper lipidemia. The etiology may be secondary to systemic, metabolic,
infectious, neoplastic, and pharmacological diseases. There is a group of
primary causes of unknown etiology whose pathophysiological mech anism is immunological whose most frequent histological pattern in
adults is focal segmental glomerulosclerosis (FSGS), minimal change
disease and membranous nephropathy that represent podocithopathies.
Currently, the KDIGO guidelines add that FSGS may have a genetic
etiology, which merits a different diagnostic and therapeutic approach
due to its refractoriness to immunosuppressive management, deter mining the causative gene is of great importance to predict its relapse in
transplantation. A diversity of genes contributing to podocitopathies
(NEPH1, TRPC6, CRB2, FAT1) located in the diaphragm slit has been
highlighted, but very few cases have been reported with the PMM2
genetic variant.
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WCN25-63 Refractory Nephrotic Syndrome in Focal and Segmental Glomerulosclerosis by PMM2 Genetic Variant Dulce M, Jaime Arturo et al. Kidney International Reports, Volume 10, Issue 2, S565 - S566
