Monogenní formy steroid-rezistentního nefrotického syndromu

Nephrotic syndrome (NS) is defined by nephrotic range proteinuria and hypoalbuminemia. Based on the response on steroid therapy it is classified as steroid-sensitive and steroid-resistant (SRNS). In childhood, 20–30% of all cases of SRNS are monogenic forms. The most common mutated genes are NPHS2 (podocin), NPHS1 (nefrin) and WT1 (Wilms tumor). The recognition of the molecular genetic etiology of SRNS has diagnostic, therapeutic and prognostic significance – in the majority of cases the patients resistant also to cyclosporine and other immunosuppressives and all progress irreversible to end-stage renal failure. On the contrary to idiopathic forms of SRNS monogenic forms do not recur in transplanted kidney.