Miroslav Šašinka, Katarína Furková
Congenital nephrotic syndromes (CNS) are important group of the hereditary nephropathies. Primary CNS constitutes Finnish type CNS, focal segmental glomerulosclerosis/diffuse mesangial sclerosis and other non-syndrome CNS forms, but a part of idiopathic NS cases, too. In the article is a review nowadays known genes and their products which cause CNS. Finnish type CNS is most frequent form of the hereditary NS manifested in first year of life, gen is NPHS1 on chromosome 19q13.1, codes a protein nephrin in the filtration membrane. Focal segmental glomerulosclerosis (FSGS) or diffuse mesangial sclerosis (DMS) are characterized with resistance on steroids and immunosuppressant’s, gen is NPHS2 which codes podocine. Authors characterize others 4 non-syndrome forms of the gens disorders, analyze clinical, laboratory and prenatal CNS diagnostics and stress importance of the genetic tests and their clinical use. CNS therapy is symptomatic, kidney transplantation has relatively good results, but prognosis is serious.