Machuca Eduardo, Benoit Geneviève, Antignac Corinne
Inserm, U574, Hôpital Necker-Enfants Malades, Paris, France.
Hum Mol Genet. 2009 Oct 15;18(R2):R185-94. doi: 10.1093/hmg/ddp328.
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.
肾病综合征（NS）中大分子的尿流失反映了高度选择性通透的肾小球滤过屏障的功能障碍。对遗传性NS的基因研究已导致鉴定出在裂孔隔膜信号传导、肌动蛋白细胞骨架动力学调节、足细胞完整性维持和细胞-基质相互作用中起关键作用的蛋白质。本综述将聚焦于NS遗传学领域的最新分子和临床研究发现，从而更好地理解复杂的肾小球滤过屏障生理学。
