Article
A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.
Medicine - 1 Sept 2018
Fan Jiaojiao, Fu Rong, Ren Fuxian, He Junjie, Wang Shujing, Gou Mengfan
Abstract excerpt
RATIONALE: Focal segmental glomerulosclerosis (FSGS) is a common disease resulting in end-stage renal disease. The incidence of FSGS is increasing in Western countries. The clinical manifestations include proteinuria, hypoproteinemia, oedema, and hypertension. Single-gene heritable mutations are considered to be the source of FSGS pathogenicity according to recent in-depth studies on the pathogenesis. Here, we...
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