Focal segmental glomerulosclerosis: genetic analysis and target therapy

O.O. Melnyk


With focal segmental glomerulosclerosis (FSGS) is associated with initial damage of podocytes. Human genetic studies over the last few years have shown that FSGS is primarily a podocytopathia with more than 20 mutated genes involved in the pathogenesis of this disease. Nephrin (NPHS1 gene) together with the podocine (NPHS2 gene) are the main proteins of podocyts slit diaphragm. Autosomal-recessive mutations of NPHS1, NPHS2 are associated with more severe condition of patients, which is manifested by early proteinuria and end-stage renal disease compared with autosomal-dominant mutations of INF2, TRPC6 and ACTN4. For initial treatment of FSGS, Kidney Disease Improving Global Outcomes (KDIGO) 2012 recommends the use of corticosteroid and immunosuppressive therapy.


focal segmental glomerulosclerosis; podocytes; protein mutations; treatment


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