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[肾脏病学中的早期基因检测——疑难临床情况下的诊断辅助手段]

[Early genetic testing in nephrology - a diagnostic aid in ambiguous clinical situations].

作者信息

Pasch Andreas

机构信息

Klinik und Poliklinik für Nephrologie und Hypertonie, Inselspital, Bern.

出版信息

Ther Umsch. 2010 Jul;67(7):375-80. doi: 10.1024/0040-5930/a000066.

Abstract

Despite a growing number of identified genetic causes of monogenetic disorders, early molecular testing is rarely applied in daily nephrologic practice. In selected cases and to answer specific questions, molecular testing however can be helpful for the specialist. The future significance of genetic testing most likely lies in the area of individual risk profiling for polygenetic disorders. The basis for this testing however has yet to be established.

摘要

尽管已发现的单基因疾病的遗传病因越来越多,但早期分子检测在日常肾脏病实践中很少应用。然而,在特定病例中,为了回答特定问题,分子检测对专科医生可能会有所帮助。基因检测未来的意义很可能在于多基因疾病的个体风险评估领域。然而,这种检测的基础尚未确立。

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