Molecular and Genetic Basis of Inherited Nephrotic Syndrome

被引：19

作者：

Gigante, Maddalena ^{[1
]}

Piemontese, Matteo ^{[2
]}

Gesualdo, Loreto ^{[1
]}

Iolascon, Achille ^{[3
,4
]}

Aucella, Filippo ^{[2
]}

机构：

[1] Univ Foggia, Dept Biomed Sci, Div Nephrol, I-71121 Foggia, Italy

[2] Casa Sollievo Sofferenza Hosp, Res Inst, Dept Med Sci, Nephrol & Dialysis Unit, Viale Cappuccini 1,San Giovanni Rotondo, I-71013 Foggia, Italy

[3] Univ Naples Federico II, Dept Biochem & Med Biotechnol, I-80127 Naples, Italy

[4] CEINGE Adv Biotechnol, I-80127 Naples, Italy

来源：

INTERNATIONAL JOURNAL OF NEPHROLOGY | 2011年 / 2011卷

关键词：

D O I：

10.4061/2011/792195

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：15

共 138 条

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