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与由……引发的突变相关的非典型溶血性尿毒症综合征

Atypical haemolytic uraemic syndrome associated with a mutation triggered by .

作者信息

Brocklebank Vicky, Wong Edwin K S, Fielding Rick, Goodship Timothy H J, Kavanagh David

机构信息

Renal Services Centre , Freeman Hospital , Newcastle upon Tyne , UK.

The Institute of Genetic Medicine , Newcastle University , Newcastle upon Tyne , UK.

出版信息

Clin Kidney J. 2014 Jun;7(3):286-288. doi: 10.1093/ckj/sfu032. Epub 2014 Apr 11.

Abstract

We present a case of haemolytic uraemic syndrome (HUS) triggered by . Of the species, only type 1 is said to produce Shiga toxin and consequently cause HUS. Investigation of the complement system in this patient revealed a 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.

摘要

我们报告了一例由……引发的溶血性尿毒症综合征(HUS)病例。在……物种中,据说只有1型会产生志贺毒素,从而导致HUS。对该患者补体系统的研究发现了一个……突变。在补体基因突变的个体中,可见非典型HUS(aHUS)的不完全外显率,这表明疾病的表现需要一个触发因素,如感染。在aHUS的补体调节治疗时代,警惕腹泻相关疾病的异常表现很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f77/4038258/39fd49af2d14/sfu03201.jpg

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