足细胞基因与激素抵抗性肾病综合征的研究进展

Advances in the study of podocyte genes and steroid-resistant nephrotic syndrome

肾病综合征是一组以大量蛋白尿、低蛋白血症、水肿、高脂血症为主要特征的综合征。多数患者对激素敏感,但仍有15%~20%的患者会出现激素抵抗,并进展至终末期肾病。激素抵抗性肾病综合征(SRNS)的治疗难度通常较大,随着分子遗传学技术的发展,研究人员发现,编码足细胞的基因突变后常可导致SRNS的发生,尤其是裂孔隔膜相关基因、细胞骨架相关基因、线粒体蛋白相关基因、核蛋白相关基因等,上述基因突变后致病性较高。本文将从足细胞基因突变的角度,探讨其与SRNS发病的关系。

Nephrotic syndrome is a group of syndromes characterized mainly by massive proteinuria, hypoalbuminemia, edema, hyperlipidemia.Although most patients are sensitive to steroid, 15%-20% will develop steroid resistance and progress to end stage renal disease(ESRD).Steroid-resistant nephrotic syndrome(SRNS) is usually more difficult to be treated.With the development of molecular genetic techniques, researchers have found that mutations in genes encoding podocytes can often lead to the development of SRNS,especially genes related to slit diaphragm, cytoskeleton, mitochondrial protein and nuclear protein and so on.The pathogenicity of these mutations is high.This article will discuss the relationship between podocyte gene mutation and the pathogenesis of SRNS.