Nephrotic syndrome (NS) is multifactorial and one of the most common renal disease in childhood. The annual incidence in children has been estimated to be 2-2,7 cases/100000 în USA. In children minimal change disease (MCNS) occurs, which is usually associated with good prognosis. Other pathological entities may be present with primary NS: mesangioproliferative glomerulonephritis and focal segmental glomerulosclerosis (FSGS), but their prognosis is not good. They are a significant cause of end stage renal diseases.(15-20%). MCNS usually occurs between 1-5 years of age, but may occur in patients of any age. Familial cases of NS are generally thought of as sporadic, but genetic factors appear to be important in pathogenesis, with both autosomal dominant and recessive forms. The genes NPHS1, NPHS2, CD2AP, ACTN4, WT-1, located on different chromosomes, encode the proteins of MBG. Their mutations could lead to proteinuria. In the past, the treatment was based on cortico- and immunosuppressive therapy, in the last 20-30 years drugs belonging to immunosuppressive therapy of organ transplantation have been added to this treatment. The future will be, in some cases, renal transplantation.The immunosuppressive drugs in these cases can become dangerous.The recurrence of proteinuria in patients who undergo renal transplantation will be less than 50-60%.
Keywords: NS, podocyte, genetic basis, mutations