Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija
Podocytes play a crucial role in the pathophysiology of most inherited and acquired glomerulopathies presenting with the nephrotic syndrome. In the case of inherited (genetic) podocytopathies, the nephrotic syndrome is generally resistant to steroid therapy (SRNS). With very few exceptions, all monogenic forms of SRNS lead to end-stage renal disease (ESRD) and they are responsible for almost 20% of all cases of ESRD. Single-gene mutations are detected in almost 30% of children and adolescents with SRNS. The most frequently detected mutated genes are NPHS2, NPHS1, WT1, PLCE1 and LAMB2. SRNS may manifest itself as an isolated clinical finding or be part of a syndromal disorder. Histopathologically, the podocytopathies include minimal change nephropathy, focal segmental glomerulosclerosis (FSGS), diffuse mesangial sclerosis and collapsing glomerulopathy. Most frequently, FSGS is found. In the present review, we describe the different intrinsic (genetic) and extrinsic causes of podocytopathies. We also discuss the indications for genetic screening, which has important therapeutic and prognostic implications.
Key words: children, podocyte, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, gene mutations.