Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
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DOI：
10.1007/s00467-010-1495-0
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发表时间：
2010-09
影响因子：
3
通讯作者：
Antignac, Corinne
中科院分区：
文献类型：
--
作者：
Benoit, Genevieve;Machuca, Eduardo;Antignac, Corinne
有几个基因与儿童肾病综合征的遗传形式有关。现在已知，与这些基因突变相关的表型显示出显著的变异性，使得基因检测和咨询成为一项更加复杂的任务。这篇综述将集中在最近的临床研究结果与这些基因已知参与孤立的类固醇耐药肾病综合征的儿童，从而提出了适当的突变筛查的方法。遗传性肾病综合征患者移植后蛋白尿复发也将讨论。
Several genes have been implicated in genetic forms of nephrotic syndrome occurring in children. It is now known that the phenotypes associated with mutations in these genes display significant variability, rendering genetic testing and counselling a more complex task. This review will focus on the recent clinical findings associated with those genes known to be involved in isolated steroid-resistant nephrotic syndrome in children and, thereby, propose an approach for appropriate mutational screening. The recurrence of proteinuria after transplantation in patients with hereditary forms of nephrotic syndrome will also be discussed.
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影响因子：
13.2
作者：
Cattran, DC;Rao, P
通讯作者：
Rao, P
影响因子：
0.9
作者：
Caridi, G.;Dagnino, M.;Ghiggeri, G. M.
通讯作者：
Ghiggeri, G. M.
影响因子：
19.6
作者：
Di Duca, M.;Oleggini, R.;Ghiggeri, G. M.
通讯作者：
Ghiggeri, G. M.
DOI：
10.1097/01.asn.0000060578.79050.e0
发表时间：
2003-05-01
影响因子：
13.6
作者：
Caridi, G;Bertelli, R;Ghiggeri, GM
通讯作者：
Ghiggeri, GM
影响因子：
30.8
作者：
Boute, N;Gribouval, O;Antignac, C
通讯作者：
Antignac, C