Geographic Diversity in Atypical Hemolytic Uremic Syndrome (aHUS): The Genetic Background of aHUS Cohort in Japan

Yoichiro Ikeda
{"title":"Geographic Diversity in Atypical Hemolytic Uremic Syndrome (aHUS): The Genetic Background of aHUS Cohort in Japan","authors":"Yoichiro Ikeda","doi":"10.29245/2572-9411/2018/3.1156","DOIUrl":null,"url":null,"abstract":"Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by the dysfunction of the alternative pathway of the complement system, which leads to the spontaneous activation of the complement system in the circulating plasma or cell surface. Recently our group published the cohort analysis of aHUS in Japan (n=118). Through the study, we revealed the followings; 1) the genetic background of aHUS in Japan was different from that in Western countries, 2) the most frequent genetic mutation detected in this study was I1157T in C3 (n=24), which was associated with superior renal outcome in spite of frequent replases, 3) Anti-CFH antibody positive aHUS had an excellent renal outcome, 4) 44% cases presented nephrotic syndrome, 5) only 12 % developed end stage renal disease (ESRD) and 6) there were 13 cases that discontinued eculizumab treatment and were followed up. These findings might help establishing the robust evidence for the optimal treatment of aHUS.","PeriodicalId":91764,"journal":{"name":"Journal of rare diseases research & treatment","volume":"75 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2018-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of rare diseases research & treatment","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29245/2572-9411/2018/3.1156","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by the dysfunction of the alternative pathway of the complement system, which leads to the spontaneous activation of the complement system in the circulating plasma or cell surface. Recently our group published the cohort analysis of aHUS in Japan (n=118). Through the study, we revealed the followings; 1) the genetic background of aHUS in Japan was different from that in Western countries, 2) the most frequent genetic mutation detected in this study was I1157T in C3 (n=24), which was associated with superior renal outcome in spite of frequent replases, 3) Anti-CFH antibody positive aHUS had an excellent renal outcome, 4) 44% cases presented nephrotic syndrome, 5) only 12 % developed end stage renal disease (ESRD) and 6) there were 13 cases that discontinued eculizumab treatment and were followed up. These findings might help establishing the robust evidence for the optimal treatment of aHUS.
非典型溶血性尿毒症综合征(aHUS)的地理多样性:日本aHUS队列的遗传背景
非典型溶血性尿毒症综合征(aus)是一种罕见的疾病,由补体系统替代通路功能障碍引起循环血浆或细胞表面补体系统的自发激活。最近,本组发表了日本aHUS的队列分析(n=118)。通过研究,我们发现了以下几点;1)日本aHUS的遗传背景与西方国家不同,2)本研究中检测到的最常见的基因突变是C3的I1157T (n=24),尽管频繁更换,但与较好的肾脏预后相关,3)抗cfh抗体阳性的aHUS肾脏预后良好,4)44%的病例出现肾病综合征。5)只有12%的患者发展为终末期肾病(ESRD); 6) 13例患者停止依珠单抗治疗并随访。这些发现可能有助于为aHUS的最佳治疗建立强有力的证据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
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
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
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 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信