Does complement factor B have a role in the pathogenesis of atypical HUS?

被引：31

作者：

Kavanagh, D

Kemp, EJ

Richards, A

Burgess, RM

Mayland, E

Goodship, JA

Goodship, THJ

机构：

[1] Washington Univ, Sch Med, St Louis, MO 63110 USA

[2] Univ Newcastle Upon Tyne, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

来源：

MOLECULAR IMMUNOLOGY | 2006年 / 43卷 / 07期

基金：

英国惠康基金;

关键词：

haemolytic uraemic syndrome; complement factor B; haplotype; renal failure;

D O I：

10.1016/j.molimm.2005.06.041

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Atypical haemolytic uraemic syndrome (aHUS) is a disorder of complement dysregulation. Because complement factor B (fB) carries the catalytic site of the alternative pathway convertase we examined it as both a potential candidate gene and modifier in the pathogenesis of aHUS. No factor B gene (BF) mutations were found in 20 patients with aHUS. There was no statistical difference between controls and aHUS patients in either BF allele or haplotype frequency. In conclusion, in this small series of aHUS patients we found no evidence that fB has a major role in the pathogenesis of aHUS. (C) 2005 Elsevier Ltd. All rights reserved.

引用

页码：856 / 859

页数：4

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