Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

作者：Machuca Eduardo; Benoit Genevieve; Antignac Corinne^*

来源：Human Molecular Genetics, 2009, 18(R2): R185-R194.

DOI：10.1093/hmg/ddp/328

Urinary losses of macromolecules in nephrotic syndrome (NS) reflect a dysfunction of the highly permselective glomerular filtration barrier. Genetic studies of hereditary forms of NS have led to the identification of proteins playing a crucial role in slit-diaphragm signalling, regulation of actin cytoskeleton dynamics, maintenance of podocyte integrity and cell-matrix interactions. This review will focus on recent molecular and clinical findings in the field of genetics of NS, thereby providing a better understanding of the complex glomerular filtration barrier physiology.

• 出版日期2009-10-15