Atypical hemolytic uremic syndrome (aHUS), is mainly present in children, who have high risks of end-stage kidney disease (ESKD), post-transplant recurrence and death. aHUS is linked to defective regulation of the complement alternative pathway (AP), with a prominent cause being mutation/inhibition of the negative regulator complement factor H (CFH). CFH function can be restored via infusion of fresh frozen plasma (FFP), a treatment that was effective for several years in a patient heterozygous for a cfh mutation, before the patient progressed to ESKD. While on dialysis, FFP was replaced with eculizumab, which blocks C5 cleavage and thus halts progression of the terminal complement pathway. Patient plasma samples collected during FFP and eculizumab treatment phases were assessed for AP activity (via erythrocyte lysis assays) and for overall complement activity (via ELISA-based screen). Assay results indicated that FFP partially restored AP regulation, an observation supported by in vitro modeling of FFP treatment using purified CFH, while eculizumab completely blocked complement activity. The same approach was used to model in vitro a potential aHUS treatment approach based on blocking the AP effector properdin (complement factor P; CFP) with an anti-properdin antibody. These results provide insights into the efficacy of aHUS treatment and highlight the usefulness of in vitro assays in monitoring and predicting therapeutic responses and testing new treatment possibilities.

译文

非典型溶血性尿毒症综合征 (aHUS) 主要存在于儿童中,这些儿童具有终末期肾脏疾病 (ESKD),移植后复发和死亡的高风险。aHUS与补体替代途径 (AP) 的缺陷调节有关,主要原因是负调节因子补体因子H (CFH) 的突变/抑制。可以通过输注新鲜的冷冻血浆 (FFP) 来恢复CFH功能,该治疗在患者进展为ESKD之前,对因cfh突变而杂合的患者有效数年。在透析时,FFP被eculizumab取代,eculizumab阻断C5裂解,从而阻止末端补体途径的进展。评估在FFP和ecolizumab治疗阶段收集的患者血浆样品的AP活性 (通过红细胞溶解测定) 和总补体活性 (通过基于ELISA的筛选)。测定结果表明,FFP部分恢复了AP调节,这一观察结果得到了使用纯化CFH的FFP治疗的体外建模的支持,而eculizumab完全阻断了补体活性。使用相同的方法在体外模拟潜在的aHUS治疗方法,该方法基于用抗properdin抗体阻断AP效应子properdin (补体因子P; CFP)。这些结果提供了对aHUS治疗功效的见解,并强调了体外测定在监测和预测治疗反应以及测试新的治疗可能性方面的有用性。

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