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多囊肾病:从床边到基因再回归临床

Polycystic kidney disease: from the bedside to the gene and back.

作者信息

Grantham J J

机构信息

Department of Internal Medicine, Biochemistry and Molecular Biology, Kidney Institute, Kansas University Medical Center, Kansas City, Kansas, USA.

出版信息

Curr Opin Nephrol Hypertens. 2001 Jul;10(4):533-42. doi: 10.1097/00041552-200107000-00008.

Abstract

Collated in this highly personal commentary are the most important research findings of the past 10 years that deal primarily with the renal manifestations of inherited polycystic kidney diseases. Progress in understanding these complex disorders has followed two major concurrent and convergent lines of investigation: genes and genetic mechanisms, and pathogenesis and progression. The field has moved from descriptive pathobiology to the elucidation of molecular mechanisms consequent to genetic and epigenetic events. Doubtless, the favorite works of some who have labored diligently in this field have not been fully exalted, and for this I apologize. Were I the editor, this entire celebratory volume would be used to extol the thrilling growth of knowledge during the tenure of this polycystic kidney disease watcher.

摘要

在这篇极具个人色彩的评论中,整理了过去10年中最重要的研究发现,这些发现主要涉及遗传性多囊肾病的肾脏表现。在理解这些复杂疾病方面的进展遵循了两条主要的并行且趋同的研究路线:基因与遗传机制,以及发病机制与疾病进展。该领域已从描述性病理生物学转向对基因和表观遗传事件导致的分子机制的阐释。毫无疑问,一些在该领域辛勤耕耘的人的杰出作品尚未得到充分颂扬,为此我表示歉意。如果我是编辑,这本整本的庆祝文集将用来赞颂在这位多囊肾病观察者任职期间知识的惊人增长。

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