Re: NPHS2 Gene in Steroid-resistant Nephrotic Syndrome: Prevalence, Clinical Course, and Mutational Spectrum in South-West Iranian Children

Dear Editor, The optimal treatment of a disease requires the knowledge of the etiology of the disease. However, in real life, this is largely elusive in the majority of diseases affecting the humans. The situation with regard to nephrotic syndrome (NS) in children is also no exception. The vast majority of cases of NS belong to the idiopathic category. Traditionally, immune pathogenesis has been thought to play the predominant role in the pathogenesis of the disorder. This is the basis for the use of steroids and immunosuppressive drugs for the empirical treatment of this condition. Since steroids form the mainstay of treatment of idiopathic NS in children, the disease is often classified on the basis of response to this treatment into steroid sensitive (SSNS) and steroid resistant (SRNS) types. Among these, the later poses significant therapeutic challenges to the pediatric nephrologists. Hence, much attention has been focused toward elucidating the causes and pathogenesis of this subset of idiopathic NS. More recently, the attention has been directed toward identifying the genetic causes of idiopathic NS. Many studies have been conducted throughout the world on identifying the genetic mutations in a number of podocyte genes. There is a wide discrepancy in the reported results in these studies. There are multiple reasons for the heterogeneous results in these studies, such as methodological differences, differences in enrolled cohorts, different definitions of SRNS, number of genes tested and so on. These factors may contribute to the real genetic differences in the different ethnic populations and geographic locations.