Genetic diseases of the kidney.
Genetic diseases of the kidney.
复制标题
肾脏遗传疾病。
作者：
J. Foreman
与肾脏疾病相关的基因数量每天都在增加，这使得人们对许多疾病中肾脏疾病的病理生理学有了更清晰的认识。现在也认识到，基因突变是许多肾脏综合征的基础。基因检测也可能提供诊断某些肾脏疾病的可能性，而不需要肾活检。它还允许产前诊断某些肾脏疾病的危险胎儿或识别潜在的肾脏疾病之前，它已经变得明显。最后，确定一个特定的基因突变有可能在未来通过基因治疗进行纠正。越来越清楚的是，许多儿科肾脏疾病是基因突变的结果。在未来，基因测试将变得像今天订购血清肌酐一样简单和普遍。
The number of genes associated with renal disease is increasing every day and this has led to a clearer understanding of the pathophysiology of renal disease in many disorders. It is also appreciated now that a genetic mutation(s) underlie many renal syndromes. Genetic testing may also offer the possibility to diagnose some renal diseases without the need for a renal biopsy. It also allows the prenatal diagnosis of certain renal diseases in at risk fetuses or identification of potential renal disease before it has become manifest. Finally, identification of a specific gene mutation holds the possibility of correction though gene therapy in the future. It is increasingly clear that many renal disorders in pediatrics are a consequence of genetic mutations. In the future, genetic testing will become as easy and as common as ordering a serum creatinine today.
DOI：
10.1073/pnas.80.9.2752
发表时间：
1983-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
SLY, WS;HEWETTEMMETT, D;TASHIAN, RE
通讯作者：
TASHIAN, RE