Idiopathic nephrotic syndrome in children: Genetic aspects

Abstract

Over the last decades, screening of large cohorts of pediatric patients presenting with steroid-resistant nephrotic syndrome (SRNS) for gene mutations has revealed the importance of genetic disorders in the pathogenesis of proteinuric glomerulopathies. Genetic forms of nephrotic syndrome have been considered as infrequent disorders; however, at least 66 % of the cases presenting with SRNS during the first year of life [1] and up to 30 % of SRNS cases with an onset below 25 years of age have an underlying monogenic defect [2]. From a clinical perspective, theoretically all patients with hereditary SRNS will be resistant to immunosuppressive agents and will not experience relapse after transplantation [3–5]. Whereas partial remission may be achieved under cyclosporin A, shown to stabilize the podocyte actin cytoskeleton in vitro through the synaptopodin pathway [6], such treatment cannot induce complete remission in SRNS related to podocyte gene mutations [4, 7–10].