Features of congenital and infantile nephrotic syndrome in Russian children

Abstract

Introduction. Nephrotic syndrome (NS) with an onset in the first year of life is one of the actual problems in pediatric nephrology due to the limited therapeutic options, the ineffectiveness of immunosuppressive therapy, and inevitable progression to chronic kidney disease (CKD). The basis of congenital NS (CNS) and infantile NS (INS) is a genetically determined pathology of podocytes. The timely verification of such pathology allows avoiding ineffective therapy and helps to predict outcomes. Aim. To determine CNS and INS’s clinical and molecular genetic characteristics in Russian children. Materials and methods. This study performed molecular genetic testing of 99 children with an early onset of NS. Results. In children with CNS and INS, the genetic cause of the disease was verified in 85%. Causative nucleotide variants prevailed in the NPHS1, NPHS2, WT1 genes. It became possible to identify the significant nucleotide variants for the Russian group of children. Children with NS at an early age turned out to be resistant to therapy with calcineurin inhibitors, which should be considered when choosing therapy tactics. Conclusion. We detected the genetic structure of congenital and infantile NS in the Russian Federation during the study. We analyzed the effectiveness of therapy with calcineurin inhibitors and the rate of CKD progression in this group.