| 儿童肾脏病与基因突变 |
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| 引用本文： | 于力. 儿童肾脏病与基因突变[J]. 临床儿科杂志, 2010, 28(4) |
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| 作者姓名： | 于力 |
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| 作者单位： | 广州医学院附属广州市第一人民医院儿科,广东广州,510180 |
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| 摘 要： | 近年来研究发现,一些蛋白编码基因异常与儿童肾脏疾病发病相关。全面而深刻的认识这些基因,为基因诊断、遗传咨询、产前诊断、估计疾病预后以及指导临床治疗奠定了基础。文章对近年来研究的一些热点基因,如NPHS1、NPHS2、WT1、ACTN4、TRPC6和CD2AP等与肾脏的关系以及这些基因突变导致肾脏疾病的有关研究进行介绍。
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| 关 键 词： | 儿童 肾脏疾病 基因突变 |
Pediatric kidney diseases and gene mutation |
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| YU Li. Pediatric kidney diseases and gene mutation[J]. The Journal of Clinical Pediatrics, 2010, 28(4) |
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| Authors: | YU Li |
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| Affiliation: | Department of Pediatrics/a>;The First Guangzhou Municipal People's Hospital Affiliated to Guangzhou Medical College/a>;Guangzhou 510180/a>;Guangdong/a>;China |
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| Abstract: | Some abnormal protein coding genes related to pediatric kidney diseases have been discovered in recent years.Fully and deeply understanding of these genes will provide a basis for applications of gene diagnosis,genetic counseling,prenatal diagnosis,disease prognosis valuation and clinical treatment guidance.In this article the relationship between kidney diseases and recent hot genes such as NPHS1,NPHS2,WT1,ACTN4,TRPC6,CD2AP and so on had been reviewed. |
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| Keywords: | children kidney disease gene mutation |
| 本文献已被 CNKI 万方数据 等数据库收录！ |
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