Hereditary podocytopathies [Article in Serbian]

Abstract

Podocytes have an elegant and complex structure, forming the final layer of the glomerular filtration barrier. Recent advances identifying genetic disorders have identified the podocyte’s key role in regulating proteinuria, both by maintaining the structure of the filtration barrier and via cell signaling. The time of onset of hereditary proteinuric diseases and their course can vary. Some patients present with severe proteinuria and congenital nephrotic syndrome, whereas others have only moderate proteinuria and focal glomerular sclerosis. Regardless of its cause, the disease often progresses to end-stage renal disease. There can be overlap between the diseases: mutations in the same gene can lead to different renal phenotypes. It is important to know that some hereditary podocytopathies respond to treatment whereas the majority does not. For this reason, genetic testing, which is available for some hereditary podocytopathies, should be performed whenever possible.