Division of Nephrology at the Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Nat Genet. 2013 May;45(5):475-6. doi: 10.1038/ng.2622.
A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome. Notably, mutations in DGKE are not associated with activation of the complement pathway, the only other identified cause of this disorder so far, and have important implications for patient management.
一项新的研究报告称,编码二酰基甘油激酶 ε 的基因的隐性失功能突变导致非典型溶血尿毒综合征。值得注意的是,DGKE 突变与补体途径的激活无关,而补体途径是迄今为止唯一确定的这种疾病的其他病因,这对患者管理具有重要意义。