3 - Nephrotic Disorders

Abstract

Nephrotic syndrome (NS) defines a clinical entity of proteinuria, hypoproteinemia, and edema. Proteinuria is caused by an acquired or genetic defect in the glomerular filtration barrier of the kidney. So far, over 50 genes responsible for NS have been identified. Mutations in genes encoding for podocyte proteins nephrin (NPHS1), podocin (NPHS2), Wilms tumor suppressor 1 (WT1), phospholipase C ε1 (PLCE1), and laminin β2 (LAMB2) account for the majority of the observed disorders. Gene mutations are more probable in pediatric (especially in infants) than adult patients. Autosomal recessive inheritance is typical for NS in small children while dominant forms are more likely observed in adults. Gene analysis using next-generation sequencing is recommended in NS cases not responding to immunosuppressive medication. Renal failure often develops in a few years after diagnosis even with an optimal supportive therapy. Kidney transplantation is a successful curative treatment option for these patients.