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Int J Nephrol. 2011;2011:792195. doi: 10.4061/2011/792195. Epub 2011 Sep 6.

Molecular and genetic basis of inherited nephrotic syndrome.

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  • 1Division of Nephrology, Department of Biomedical Science, University of Foggia, 71121 Foggia, Italy.

Abstract

Nephrotic syndrome is an heterogeneous disease characterized by increased permeability of the glomerular filtration barrier for macromolecules. Podocytes, the visceral epithelial cells of glomerulus, play critical role in ultrafiltration of plasma and are involved in a wide number of inherited and acquired glomerular diseases. The identification of mutations in nephrin and other podocyte genes as causes of genetic forms of nephrotic syndrome has revealed new important aspects of the pathogenesis of proteinuric kidney diseases and expanded our knowledge of the glomerular biology. Moreover, a novel concept of a highly dynamic slit diaphragm proteins is emerging. The most significant discoveries in our understanding of the structure and function of the glomerular filtration barrier are reviewed in this paper.

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