Steroid-resistant nephrotic syndrome in children — pathogenesis, diagnosis and treatment

Abstract

Steroid-resistant nephrotic syndrome constitutes a challenge for pediatric nephrologists. Due to the limited efficacy of treatment it appears as one of the main causes of end stage renal disease in childhood. Treatment consists of high doses of corticosteroids in combination with intensive immunosuppression leading to remission only in a proportion of patients. Many others do not respond due to the underlying structural or functional defects of glomerular filtration membrane caused by specific mutations in responsible genes. Mutations of several genes involved in pathogenesis of the disease have been identified. Genetic tests should be introduced as routine clinical practice to identify children with known mutations to avoid unnecessary further immunosuppressive treatment.