Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis

Collett James; Mallawaarachchi Amali; Fischer Eddy; Komala Muralikrishna Gangadharan; Sud Kamal; Bose Bhadran

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Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis

机译：新型补体因子H基因突变导致非典型溶血性尿毒症综合征：早期依库丽单抗可预防急性透析

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We describe the clinical course and response to treatment of atypical haemolytic uraemic syndrome (aHUS) in two sisters presenting to our hospital 6 years apart with a novel complement factor H mutation that has not been described previously in literature and demonstrates the genetic complexity of this ultra-rare disease. The contrast in course and outcome of disease between the two sisters highlights the rapid evolution of management of aHUS, the importance of rapidly establishing a diagnosis, and how minimizing time to eculizumab therapy significantly reduces associated morbidity and mortality.

机译：我们描述了两个姐妹的非典型溶血性尿毒综合症（aHUS）的临床过程和对治疗的反应，这些姐妹目前就诊于我们医院，病程为6年，伴有新的补体因子H突变，该突变以前在文献中未曾描述过，并证明了这种超基因的遗传复杂性-罕见疾病。两姐妹之间在病程和疾病结局方面的对比突出了aHUS管理的快速发展，快速建立诊断的重要性以及最小化依库丽单抗治疗时间如何显着降低相关发病率和死亡率。

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《Clinical kidney journal.》 |2017年第2期|共3页
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Collett James; Mallawaarachchi Amali; Fischer Eddy; Komala Muralikrishna Gangadharan; Sud Kamal; Bose Bhadran;
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中图分类泌尿科学（泌尿生殖系疾病）;
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1. Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis [J] . Amali Mallawaarachchi, Kamal Sud, Eddy Fischer, Clinical kidney journal. . 2017,第2期

机译：新型补体因子H基因突变导致非典型溶血性尿毒症综合征：早期依库丽单抗可预防急性透析
2. LIVER-KIDNEY TRANSPLANTION WITH PRE-OPERATIVE ECULIZUMAB AND PLASMA EXCHANGE FOR ATYPICAL HAEMOLYTIC URAEMIC SYNDROME (AHUS) WITH A COMPLEMENT FACTOR-H (CFH) MUTATION [J] . Collins M., Dittmer I, Walker J., Nephrology. . 2016,第Suppla2期

机译：术前厄立替康联合血浆置换的肝肾移植术与非典型溶血尿毒症综合征（AHUS）的互补因子-H（CFH）突变
3. Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B [J] . GilbertR.D., FowlerD.J., AngusE., Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2013,第8期

机译：Eculizumab治疗因补体因子B功能获得性突变而引起的非典型溶血性尿毒症综合征
4. Pathogenesis of Cardiorenal Syndrome Type 1 in Acute Decompensated Heart Failure: Workgroup Statements from the Eleventh Consensus Conference of the Acute Dialysis Quality Initiative (ADQI) [C] . Michael Haase, Christian Muller, Kevin Damman, Conference on Biomarkers in AKI (Acute Kidney Injury) . 2013

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5. A study on two chromatin-related factors: Analysis of MeCP2 and mutations linked to Rett syndrome identification of co-factors for the insulator protein CTCF [D] . Yusufzai, Timur M. 2004

机译：两种与染色质相关的因子的研究：MeCP2分析和与Rett综合征相关的突变鉴定绝缘子蛋白CTCF的辅助因子
6. Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis [O] . James Collett, Amali Mallawaarachchi, Eddy Fischer, 2017

机译：新型补体因子H基因突变引起非典型溶血性尿毒症综合征：早期依库丽单抗可预防急性透析
7. A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report [O] . Muneera Alabdulqader, Khalid Alfakeeh 2021

机译：患有纯合二氨基甘油激酶ε（DGKE）基因突变的患者，具有非典型溶血性血糖综合征和低C3对Eculizumab作出良好的反应良好：案例报告

Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis

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