Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.
Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.
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DOI：
10.1093/ckj/sfu032
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发表时间：
2014-06
影响因子：
4.6
通讯作者：
Kavanagh D
中科院分区：
文献类型：
--
作者：
Brocklebank V;Wong EK;Fielding R;Goodship TH;Kavanagh D
我们提出了一个溶血性尿毒综合征（HUS）触发志贺菌福氏。志贺氏菌中，只有S.据说1型志贺菌产生滋贺毒素并因此引起HUS。对该患者补体系统的研究显示了CD46突变。在补体基因突变的个体中，可以看到非典型HUS（阿胡斯）的不完全突变，这表明疾病的表现需要触发因素，如感染。在阿胡斯的补体调节治疗的时代，重要的是要警惕肾脏相关疾病的不寻常表现。
We present a case of haemolytic uraemic syndrome (HUS) triggered by Shigella flexneri. Of the Shigella species, only S. dysenteriae type 1 is said to produce Shiga toxin and consequently cause HUS. Investigation of the complement system in this patient revealed a CD46 mutation. In individuals with mutations in complement genes incomplete penetrance of atypical HUS (aHUS) is seen, suggesting that a trigger, such as infection, is required for disease to manifest. In an era of complement modulatory therapy for aHUS it is important to be alert to unusual presentations of diarrhoeal-associated disease.