遗传性肾病患者出现肾衰竭的风险

IF 28.6 1区 医学 Q1 UROLOGY & NEPHROLOGY Nature Reviews Nephrology Pub Date : 2024-09-25 DOI:10.1038/s41581-024-00896-0
Susan J. Allison
{"title":"遗传性肾病患者出现肾衰竭的风险","authors":"Susan J. Allison","doi":"10.1038/s41581-024-00896-0","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19059,"journal":{"name":"Nature Reviews Nephrology","volume":null,"pages":null},"PeriodicalIF":28.6000,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Risk of kidney failure among patients with genetic kidney diseases\",\"authors\":\"Susan J. Allison\",\"doi\":\"10.1038/s41581-024-00896-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19059,\"journal\":{\"name\":\"Nature Reviews Nephrology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":28.6000,\"publicationDate\":\"2024-09-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature Reviews Nephrology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.nature.com/articles/s41581-024-00896-0\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Nature Reviews Nephrology","FirstCategoryId":"3","ListUrlMain":"https://www.nature.com/articles/s41581-024-00896-0","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0

摘要

单基因改变会导致多种儿科肾脏疾病;然而,人们对这些疾病与临床结果的关系了解有限。对三个队列的最新分析表明,单基因肾脏疾病与肾衰竭风险增加有关。"马克-埃利奥特(Mark Elliott)及其同事评估了三个队列中基因诊断分析与临床结果之间的关联:前瞻性的肾小球肾病治疗网络(CureGN)和哥伦比亚大学的两个回顾性队列,包括5727名接受了全基因组或外显子组测序的成人和儿童肾病患者。在所有三个队列中,单基因肾脏疾病患者的肾衰竭风险均高于非单基因肾脏疾病患者(CureGN:HR 2.44,P = 2.42 × 10-3;Columbia-GN:HR 1.84,P = 0.033;Columbia-CKD:HR 1.59,P = 2.06 × 10-8)。单基因肾脏疾病患者的估计肾小球滤过率(eGFR)下降率也更高,而且获得完全缓解的可能性也更小。在两个队列(Columbia-GN 和 Columbia-CKD)中,高风险 APOL1 基因型患者发生肾衰竭的风险也增加了,而在 CureGN 队列中,高风险 APOL1 基因型患者的 eGFR 下降率更高。研究人员说,他们的发现将推动人们寻找更有效的遗传性肾脏疾病疗法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Risk of kidney failure among patients with genetic kidney diseases
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Nature Reviews Nephrology
Nature Reviews Nephrology 医学-泌尿学与肾脏学
CiteScore
39.00
自引率
1.20%
发文量
127
审稿时长
6-12 weeks
期刊介绍: Nature Reviews Nephrology aims to be the premier source of reviews and commentaries for the scientific communities it serves. It strives to publish authoritative, accessible articles. Articles are enhanced with clearly understandable figures, tables, and other display items. Nature Reviews Nephrology publishes Research Highlights, News & Views, Comments, Reviews, Perspectives, and Consensus Statements. The content is relevant to nephrologists and basic science researchers. The broad scope of the journal ensures that the work reaches the widest possible audience.
期刊最新文献
Kidney disease and reproductive health ECM remodelling by ADAMTS12 in fibrosis A guide to gene–disease relationships in nephrology International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance) Bacteria caught in neutrophil and UMOD traps in urine
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1