Nephrotic Syndrome (NS) [N04.9]
OMIM numbers: 256300, 602716 (NPHS1), 600995, 604766 (NPHS2), 610725, 608414 (PLCE1), 256370, 607102 (WT1), 614199, 609049, 150325 (LAMB2), 614650, 614647 (COQ6), 603278, 604638 (ACTN4), 603965, 603652 (TRPC6), 607832, 604241 (CD2AP), 613237, 610982 (INF2)
PD Dr. med. Julia Höfele
The nephrotic syndrome (NS) is characterized by dysfunction of the glomerular filtration and excessive loss of plasma proteins (proteinuria) as well as hypoalbuminemia. The consequence is edemas and secondary hyperlipidemia. 58% of all patients suffering from steroid-resistant NS develop a rapid decrease in renal funtion or even renal failure. According to the various underlying causes of the disease, idiopathic (primary) NS can be distinguished from symptomatic or secondary types (in the context of other underlying conditions immunological systemic disorders, metabolic disorders, chronic infections, intoxication) and from the congenital type.
In the past few years, mutations associated with NS have been identified in the following genes which are expressed in podocytes: NPHS1, NPHS2, WT1, ACTN4, CD2AP, COQ6, TRPC6, LAMB2, PLCE1 and INF2. Retrospective studies concerning the response to intensified immunosuppression with cyclosporin A in patients with genetic and non-genetic steroid-resistant nephrotic syndrome prove that patients suffering from the genetic form cannot be brought into (full) remission by intensified immunosuppression.