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理解与补体调节异常相关的肾小球疾病谱。

Making sense of the spectrum of glomerular disease associated with complement dysregulation.

作者信息

Johnson Sally Ann, Wong Edwin K S, Taylor C Mark

机构信息

Paediatric Nephrology, Great North Children's Hospital, Newcastle Upon Tyne, UK,

出版信息

Pediatr Nephrol. 2014 Oct;29(10):1883-94. doi: 10.1007/s00467-013-2559-8. Epub 2013 Jul 14.

DOI:10.1007/s00467-013-2559-8
PMID:23852337
Abstract

Over recent years, complement has emerged as a major player in the development of a number of glomerular diseases, including atypical haemolytic uraemic syndrome, membranoproliferative glomerulonephritis and the recently described C3 glomerulonephritis. Some patients and pedigrees show overlapping features of these conditions. Intriguingly, a few complement gene mutations are common to different disease phenotypes. In this review, we explore the evidence for complement dysregulation in these diseases and the clinical interface between them, and present a hypothesis to explain the variable phenotype associated with dysregulation of the alternative complement pathway.

摘要

近年来,补体已成为包括非典型溶血尿毒综合征、膜增生性肾小球肾炎和最近描述的C3肾小球肾炎在内的多种肾小球疾病发展过程中的主要参与者。一些患者和家系表现出这些病症的重叠特征。有趣的是,一些补体基因突变在不同疾病表型中是常见的。在本综述中,我们探讨了这些疾病中补体调节异常的证据以及它们之间的临床关联,并提出一个假说来解释与替代补体途径调节异常相关的可变表型。

相似文献

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Making sense of the spectrum of glomerular disease associated with complement dysregulation.理解与补体调节异常相关的肾小球疾病谱。
Pediatr Nephrol. 2014 Oct;29(10):1883-94. doi: 10.1007/s00467-013-2559-8. Epub 2013 Jul 14.
2
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J Med Genet. 2007 Mar;44(3):193-9. doi: 10.1136/jmg.2006.045328. Epub 2006 Oct 3.
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引用本文的文献

1
Atypical hemolytic uremic syndrome: a clinical conundrum.非典型溶血性尿毒症综合征:一个临床难题。
Pediatr Nephrol. 2016 Oct;31(10):1615-24. doi: 10.1007/s00467-016-3369-6. Epub 2016 May 2.
2
An emerging molecular understanding and novel targeted treatment approaches in pediatric kidney diseases.儿科肾脏疾病中新兴的分子认识和新型靶向治疗方法。
Front Pediatr. 2014 Jul 1;2:68. doi: 10.3389/fped.2014.00068. eCollection 2014.

本文引用的文献

1
Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome.依库珠单抗治疗非典型溶血尿毒综合征。
N Engl J Med. 2013 Jun 6;368(23):2169-81. doi: 10.1056/NEJMoa1208981.
2
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.DGKE 中的隐性突变导致非典型溶血尿毒综合征。
Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31.
3
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.DGKE 变异导致肾小球微血管病,类似于膜增生性 GN。
J Am Soc Nephrol. 2013 Feb;24(3):377-84. doi: 10.1681/ASN.2012090903. Epub 2012 Dec 28.
4
Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis.补体因子 H 突变与备解素缺乏导致严重 C3 肾小球肾炎。
J Am Soc Nephrol. 2013 Jan;24(1):53-65. doi: 10.1681/ASN.2012060570. Epub 2012 Nov 30.
5
Loss of properdin exacerbates C3 glomerulopathy resulting from factor H deficiency.补体因子 H 缺陷所致 C3 肾小球病中备解素缺失加重疾病。
J Am Soc Nephrol. 2013 Jan;24(1):43-52. doi: 10.1681/ASN.2012060571. Epub 2012 Nov 26.
6
Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies.依库珠单抗在非典型溶血尿毒综合征和 C3 肾小球病中的应用。
Nat Rev Nephrol. 2012 Nov;8(11):643-57. doi: 10.1038/nrneph.2012.214. Epub 2012 Oct 2.
7
Overall neutralization of complement factor H by autoantibodies in the acute phase of the autoimmune form of atypical hemolytic uremic syndrome.自身抗体在非典型溶血尿毒症综合征自身免疫形式的急性期对补体因子 H 的总体中和作用。
J Immunol. 2012 Oct 1;189(7):3528-37. doi: 10.4049/jimmunol.1200679. Epub 2012 Aug 24.
8
Sensitive and specific assays for C3 nephritic factors clarify mechanisms underlying complement dysregulation.针对C3肾炎因子的敏感且特异的检测方法阐明了补体失调的潜在机制。
Kidney Int. 2012 Nov;82(10):1084-92. doi: 10.1038/ki.2012.250. Epub 2012 Aug 1.
9
Factor H autoantibodies in membranoproliferative glomerulonephritis.补体因子 H 自身抗体与膜增生性肾小球肾炎。
Mol Immunol. 2012 Oct;52(3-4):200-6. doi: 10.1016/j.molimm.2012.05.009. Epub 2012 Jun 20.
10
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up.C3 肾小球肾炎:临床病理表现、补体异常、肾小球蛋白质组学特征、治疗及随访。
Kidney Int. 2012 Aug;82(4):465-73. doi: 10.1038/ki.2012.212.