Genomic medicine for kidney disease.
Genomic medicine for kidney disease.
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DOI：
10.1038/nrneph.2017.167
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发表时间：
2018-03
期刊：
影响因子：
--
通讯作者：
Gharavi AG
中科院分区：
文献类型：
--
作者：
Groopman EE;Rasouly HM;Gharavi AG
新一代测序和染色体微阵列等技术促进了对各种肾脏疾病分子发病机制的理解。遗传发现越来越多地用于许多肾病的临床管理，使有针对性的疾病监测，治疗选择和家庭咨询成为可能。遗传分析在儿科肾脏病学中具有出色的诊断效用，如对患有先天性肾脏和尿路异常以及类固醇抵抗性肾病综合征的患者的测序研究所示。虽然还需要进一步的调查，但初步研究表明，基因检测也可以在成年患者中提供类似的诊断见解。根据患者的临床表现和与疑似肾病相关的潜在基因数量，首先需要选择合适的检测方式进行基因诊断。全基因组测序相对于靶向组提高了诊断敏感性，但在大量数据中识别因果变异和解释次要发现方面存在挑战。为了实现肾脏疾病的基因组医学的承诺，许多技术，后勤和伦理问题伴随在肾脏学基因检测的实施必须解决。为肾脏学中基因检测的应用和实施制定循证指南将有助于将遗传知识转化为改善肾脏疾病患者的临床结果。
Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders. Genetic findings are increasingly used to inform the clinical management of many nephropathies, enabling targeted disease surveillance, choice of therapy, and family counselling. Genetic analysis has excellent diagnostic utility in paediatric nephrology, as illustrated by sequencing studies of patients with congenital anomalies of the kidney and urinary tract and steroid-resistant nephrotic syndrome. Although additional investigation is needed, pilot studies suggest that genetic testing can also provide similar diagnostic insight among adult patients. Reaching a genetic diagnosis first involves choosing the appropriate testing modality, as guided by the clinical presentation of the patient and the number of potential genes associated with the suspected nephropathy. Genome-wide sequencing increases diagnostic sensitivity relative to targeted panels, but holds the challenges of identifying causal variants in the vast amount of data generated and interpreting secondary findings. In order to realize the promise of genomic medicine for kidney disease, many technical, logistical, and ethical questions that accompany the implementation of genetic testing in nephrology must be addressed. The creation of evidence-based guidelines for the utilization and implementation of genetic testing in nephrology will help to translate genetic knowledge into improved clinical outcomes for patients with kidney disease.
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DOI：
10.1038/gim.2016.131
发表时间：
2017-04
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Bekheirnia MR;Bekheirnia N;Bainbridge MN;Gu S;Coban Akdemir ZH;Gambin T;Janzen NK;Jhangiani SN;Muzny DM;Michael M;Brewer ED;Elenberg E;Kale AS;Riley AA;Swartz SJ;Scott DA;Yang Y;Srivaths PR;Wenderfer SE;Bodurtha J;Applegate CD;Velinov M;Myers A;Borovik L;Craigen WJ;Hanchard NA;Rosenfeld JA;Lewis RA;Gonzales ET;Gibbs RA;Belmont JW;Roth DR;Eng C;Braun MC;Lupski JR;Lamb DJ
通讯作者：
Lamb DJ
影响因子：
12.3
作者：
Saudi Mendeliome Group
通讯作者：
Saudi Mendeliome Group
影响因子：
19.6
作者：
Bierzynska, Agnieszka;McCarthy, Hugh J.;Saleem, Moin A.
通讯作者：
Saleem, Moin A.
影响因子：
15.9
作者：
Ashraf, Shazia;Gee, Heon Yung;Hildebrandt, Friedhelm
通讯作者：
Hildebrandt, Friedhelm
影响因子：
5.4
作者：
Arpegård J;Viktorin A;Chang Z;de Faire U;Magnusson PK;Svensson P
通讯作者：
Svensson P