Accumulation of globotriaosylceramide in podocytes in Fabry nephropathy is associated with progressive podocyte loss
B Najafian, C Tøndel, E Svarstad… - Journal of the …, 2020 - journals.lww.com
Background In males with classic Fabry disease, the processes leading to the frequent
outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A
lead to accumulation of globotriaosylceramide (GL3) in various cell types. In the glomerular
podocytes, accumulation of GL3 progresses with age. Of concern, podocytes are relatively
resistant to enzyme replacement therapy and are poorly replicating, with little ability to
compensate for cell loss. Methods In this study of 55 males (mean age 27 years) with classic …
outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A
lead to accumulation of globotriaosylceramide (GL3) in various cell types. In the glomerular
podocytes, accumulation of GL3 progresses with age. Of concern, podocytes are relatively
resistant to enzyme replacement therapy and are poorly replicating, with little ability to
compensate for cell loss. Methods In this study of 55 males (mean age 27 years) with classic …