作者
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M Slater, Vivette D'Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A Newton, Maya K Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A Canetta, Andrew S Bomback, Gerald B Appel, Corinne Antignac, Glen S Markowitz, Christine K Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G Gharavi
发表日期
2018/1/16
期刊
Annals of internal medicine
卷号
168
期号
2
页码范围
100-109
出版商
American College of Physicians
简介
Background
The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown.
Objective
To study the diagnostic utility of WES in a selected referral population of adults with CKD.
Design
Observational cohort.
Setting
A major academic medical center.
Patients
92 adults with CKD of unknown cause or familial nephropathy or hypertension.
Measurements
The diagnostic yield of WES and its potential effect on clinical management.
Results
Whole-exome sequencing provided a …
学术搜索中的文章
S Lata, M Marasa, Y Li, DA Fasel, E Groopman… - Annals of internal medicine, 2018