Genetic Nephrotic Syndrome in Children and Adolescents: An Update

Idiopathic nephrotic syndrome is one of the most common glomerular diseases in children and adolescents. Monogenic nephrotic syndrome is associated with lower rates of remission following treatment with standard immunosuppressive therapies and a higher risk of progression to end-stage kidney disease. Advances in genetic testing technologies have identified more than 100 single-gene causes of nephrotic syndrome and made genetic testing more accessible in clinical practice. The vast majority of genes implicated in the etiology of nephrotic syndrome are associated with the glomerular filtration barrier and primarily with the podocyte. A molecular diagnosis of nephrotic syndrome has implications for medication choice, prognostication, indications for further testing, and transplant planning. Like all clinical tools, however, it must be utilized in the appropriate clinical context, though no standardized guidelines exist for indications for genetic testing in nephrotic syndrome. Standard treatment of nephrotic syndrome consists of immunosuppressive therapies. However, patients with monogenic nephrotic syndrome are less likely to achieve remission with immunosuppression, and alternative treatment options are under investigation.