Clinical-genetic features and therapy strategy of hereditary congenital and infantile nephrotic syndrome in children (literature review)

Abstract

In the literature review are presented the etiology, clinical and genetic features of congenital and infantile nephrotic syndrome (NS) in children, as of isolated and with extra-renal manifestations. Congenital NS is diagnosed in children from birth to 3 months, infantile NS – from 4 to 12 months. Clinical and genetic features of hereditary variants of congenital and infantile NS in children caused by mutations of genes encoding the main components of slit diaphragm, glomerular basement membrane and the cytoskeleton of the podocyte feet are described. R. Preston et al (2019) believe that clinical phenotyping combined with targeted genetic analysis is effective in diagnosing steroid-resistant congenital and infantile NS in children. Currently, genetic testing is recommended before initiating immunosuppressive therapy and performing a biopsy of the kidney. Mutational screening of genes is shown in hereditary variants of congenital (NPHS1, NPHS2, WT1, LAMB2, PLCE1, LMX1B) and infantile (NPHS2, NPHS1, WT1, PLCE1, TRPC6, ACTN4, ADCK4, COQ2, COQ6) NS in children. The NPHS1 mutation detection rate remains high amongst non–Finnis cases of congenital NS. In international practice, with the aim of early diagnosis and treatment of steroid-resistant congenital and infantile NS in children, modern methods of mutational screening are used. Renal biopsy fades into the background. The literature review presents a modern strategy of drug and early renal replacement therapy. Recommendations for the management of Finnish-type congenital NS in children followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis, and transplantation. The 5-years survival of patients with congenital and infantile nephrotic syndrome after kidney transplantation is more than 90 %, the survival rate of the renal allograft is more than 80 %.