Genetic podocytopathies

Abstract Podocytes play an indispensable role in the formation and maintenance of the renal filtration barrier. Podocytopathies are characterized by proteinuria up to the nephrotic range caused by podocyte dysfunction. To date, more than 70 genes have been implicated as monogenic causes of hereditary nephrotic syndrome, clustering into groups that reflect diverse cellular roles, including slit diaphragm-associated genes, cytoskeletal regulators, and matrix components or receptors. Other genes are involved in mitochondrial, vesicular, or nuclear transport and signalling, offering further insights into podocyte (patho)biology. Although genetic podocytopathies frequently present in childhood, they may also manifest later in life, collectively representing a significant cause of chronic kidney disease.