IFIBIO HOUSSAY   25014
INSTITUTO DE FISIOLOGIA Y BIOFISICA BERNARDO HOUSSAY
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
RENAL PROTEIN HANDLING IN FABRY DISEASE NEPHROPATHY
Autor/es:
LAGO NÉSTOR, ; OCHOA FEDERICO, ; COSTALES-COLLAGUAZO CRISTIAN, , ; ZOTTA ELSA; SEYAHIAN ABRIL,
Reunión:
Congreso; SAIC; 2017
Resumen:
X-linked recessive disease due to alpha-galactosidase deficiency A that determines the accumulation of glucosphingolipids as intracellular globotriaosilceramide (Gb3). The prevalence of the disease is 1/40000 live births. This enzyme appears in the lysosomes of the whole organism, so the disease goes through systemic manifestations. Nephropathy is associated with the accumulation of lysosomal inclusions at the level of podocytes. The first renal manifestations are deficiencies in the capacity of urine concentration, but in adulthood renal insufficiency and proteinuria caused by the alteration in the filtration barrier appear. Megalin is an endocytic receptor type LDLR, identified at the podocyte level and apical membrane of the proximal tubule, with multiple protein ligands such as albumin. The aim of the study is to study tubular causes of proteinuria as an additional mechanism to the urinary excretion of proteins in Fabry´s disease. Immunohistochemistry techniques were performed on 11 samples. Biopsies in paraffin (3) and electron microscopy (8), previously dewaxed or exposed to saturated sodium hydroxide solution respectively, for further processing for fluorescence and peroxidase-DAB immunostaining. Megalin (1/50; Abcam, USA) was used as the primary antibody. Signal was detected for megalin in the cytoplasm of the proximal tubules. Taking into account that the normal expression pattern is at the apical border, our results suggest an alteration in protein endocytosis due to lack of recycling of megalin that would indicate a mixed origin of proteinuria.Key words: Fabry, Proteinuria, Megalin, Podocyte,Gb3.