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先天性肾病综合征

Congenital nephrotic syndromes.

作者信息

Khoshnoodi J, Tryggvason K

机构信息

Division of Matrix Biology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, S-171 77, Stockholm, Sweden.

出版信息

Curr Opin Genet Dev. 2001 Jun;11(3):322-7. doi: 10.1016/s0959-437x(00)00197-0.

Abstract

Many acquired and familial renal diseases in man lead to kidney dysfunction and nephrotic syndrome. These diseases share a common pathological fate in the form of glomerular dysfunction and proteinuria. Classification of the disease is difficult because the onset of pathological appearance in congenital nephrotic syndrome (CNS) varies considerably. Recently, classification has been aided by applying molecular genetics to identify genes involved in the pathogenesis of proteinuria. Light has also been shed on the biology and mechanisms of glomerular filtration and the molecular pathogenesis of CNS.

摘要

人类许多获得性和家族性肾脏疾病会导致肾功能障碍和肾病综合征。这些疾病都以肾小球功能障碍和蛋白尿的形式有着共同的病理转归。由于先天性肾病综合征(CNS)病理表现的发病情况差异很大,因此疾病分类很困难。最近,通过应用分子遗传学来鉴定参与蛋白尿发病机制的基因,这对疾病分类有所帮助。肾小球滤过的生物学和机制以及CNS的分子发病机制也已得到阐明。

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