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[大学生论坛]:肾脏病外体测序的诊断价值

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sarah 发表于 2019-1-4 00:17:28 | 显示全部楼层 |阅读模式
本帖最后由 sarah 于 2019-1-4 00:19 编辑


DiagnosticUtility of Exome Sequencing for Kidney Disease
肾脏病外体测序的诊断价值

BACKGROUND
背景
Exome sequencing is emerging as afirst-line diagnostic method in some clinical disciplines, but its usefulnesshas yet to be examined for most constitutional disorders in adults, includingchronic kidney disease, which affects more than 1 in 10 persons globally.
在一些临床学科中,外体测序正在成为一线诊断方法,但它对成人的大部分体质疾病(包括慢性肾病)的用处还有待于检验,慢性肾病影响到全球超过十分之一的人。


METHODS
方法
We conducted exome sequencing anddiagnostic analysis in two cohorts totaling 3315 patients with chronic kidneydisease. We assessed the diagnostic yield and, among the patients for whomdetailed clinical data were available, the clinical implications of diagnosticand other medically relevant findings.
我们对两组慢性肾病患者(总共3315人)进行了体外测序和诊断分析。我们评估了诊断率以及有详细临床数据的病人的诊断结果和其他医学相关结果的临床意义。


RESULTS
结果
In all, 3037 patients (91.6%) were over 21years of age, and 1179 (35.6%) were of self-identified non-European ancestry.We detected diagnostic variants in 307 of the 3315 patients (9.3%),encompassing 66 different monogenic disorders. Of the disorders detected, 39(59%) were found in only a single patient. Diagnostic variants were detectedacross all clinically defined categories, including congenital or cystic renaldisease (127 of 531 patients [23.9%]) and nephropathy of unknown origin (48 of281 patients [17.1%]). Of the 2187 patients assessed, 34 (1.6%) had geneticfindings for medically actionable disorders that, although unrelated to theirnephropathy, would also lead to subspecialty referral and inform renalmanagement.
共有3037名患者(91.6%)年龄在21岁以上,1179人(35.6%)是自我认定的非欧洲血统。我们检测了3315例中的307例(9.3%)的诊断变体,包括66种不同的单源性疾病。在检测到的病症中,有39种(59%)仅在一名患者身上发现。在所有临床定义的类别中都发现了诊断变体,包括先天性或囊性肾病(531例中的127例[23.9%])和不明原因肾病(281例中的48例[17.1%])。在2187名被评估的患者中,有34人(1.6%)被发现有遗传的,但可以进行医治的疾病,这些疾病虽然与肾病无关,但也会导致亚专科转诊,并需要进行肾脏管理。


CONCLUSIONS
结论
Exome sequencing in a combined cohort ofmore than 3000 patients with chronic kidney disease yielded a genetic diagnosisin just under 10% of cases. (Funded by the National Institutes of Health andothers.)
在接受外体测序的3000多名慢性肾脏疾病患者的组合中,只有近10%的患者接受了基因诊断。(由国家卫生研究院和其他机构资助)

作者:Emily E. Groopman, B.A., Maddalena Marasa,M.D., Sophia Cameron-Christie, Ph.D., Slavé Petrovski, Ph.D., Vimla S.Aggarwal, M.B., B.S., Hila Milo-Rasouly, Ph.D., Yifu Li, M.D., Junying Zhang,B.S., Jordan Nestor, M.D., Priya Krithivasan, M.Sc., Wan Yee Lam, B.S., AdeleMitrotti, M.D., et al.
期刊:New England Journal of Medicine
发表日期:2018-12-26
DOI: 10.1056/NEJMoa1806891

https://www.nejm.org/doi/full/10.1056/NEJMoa1806891?query=recirc_top_ribbon_article_5



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