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药物诱导的长QT综合征的遗传易感性背景

[Genetic background predisposing the drug-induced long QT syndrome].

作者信息

Horie Minoru

机构信息

Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta-tukinowa, Otsu, Japan.

出版信息

Nihon Yakurigaku Zasshi. 2003 Jun;121(6):401-7. doi: 10.1254/fpj.121.401.

Abstract

Molecular and cellular mechanisms underlying the QT prolongation have been elucidated largely because of the recent understanding of the generation of the congenital forms of QT prolongation; i.e., the long QT syndrome. To date, at least 7 different genes that modulate cardiac ion channels were identitied to be associated with the syndrome. In the clinical setting, the drug-induced long QT syndrome is more frequently seen and therefore important. We found several mutations as well as an SNP specific among the Japanese population in probands referred to as the secondary long QT patients, including the drug-induced cases. These findings raised the potential that there are also predisposing risk factors at patient's side.

摘要

QT间期延长背后的分子和细胞机制已得到很大程度的阐明,这主要归功于最近对先天性QT间期延长形式即长QT综合征的发病机制的理解。迄今为止,已确定至少7种调节心脏离子通道的不同基因与该综合征相关。在临床环境中,药物诱导的长QT综合征更为常见,因此很重要。我们在被称为继发性长QT患者(包括药物诱导病例)的先证者中发现了几种突变以及日本人群特有的一个单核苷酸多态性。这些发现增加了患者自身也存在易感风险因素的可能性。

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