医学
溶血-尿毒症性综合征
遗传学
基因
生物
大肠杆菌
作者
Elisa Bongetti,David Kavanagh,Kylie Martin,A. J. Bendall,Prue Hill,Adam Steinberg,Yogeshwar Rajaram,Francesco L. Ierino
出处
期刊:Nephrology
[Wiley]
日期:2020-01-04
卷期号:25 (7): 518-521
被引量:1
摘要
Atypical haemolytic uraemic syndrome (aHUS) is a severe, life-threatening condition that requires early recognition and urgent treatment. In aHUS rare genetic variants in CFH, CFI, CD46, C3 and CFB predispose to complement over activation. This case describes a case of aHUS in which there was a strong temporal association between disease onset and the use of smoked cocaine. The patient was found to have a rare genetic variant in the CFI gene which may have been unmasked by first-time exposure to cocaine. The patient stabilized and improved with early administration of eculizumab, supporting the notion of an underlying immunological pathogenesis and the importance of early intervention.
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