Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population

Frontiers in Pediatrics

Jennifer D. Varner¹ 

关键词: focal segmental glomerulosclerosis;    genetic testing;    monogenic disease;    podocyte;    steroid-resistant nephrotic syndrome;   

DOI  :  10.3389/fped.2018.00307

学科分类：儿科学

来源: Frontiers

【 摘 要 】

Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children and young adults. Despite advances in genomic science that have led to the discovery of >50 monogenic causes of SRNS, there are no clear guidelines for genetic testing in clinical practice.

【 授权许可】

CC BY