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首页> 外文期刊>Pediatric Nephrology >Severe atypical HUS caused by CFH S1191L—case presentation and review of treatment options
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Severe atypical HUS caused by CFH S1191L—case presentation and review of treatment options

机译：CFH S1191L引起的严重非典型HUS —病例介绍和治疗方案回顾

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Atypical hemolytic uremic syndrome (aHUS) has been associated with defective regulation of the alternative complement pathway. Although the use of plasma therapy is recommended, there is little consensus on the optimal treatment regimen. The outcome in many cases remains poor despite an improvement in our understanding of the pathology of aHUS. We have followed a female patient with aHUS associated with heterozygous complement Factor H (CFH) mutation (S1191L) over a period of 15 years. She has been plasma dependent since infancy and has subsequently progressed to end stage kidney disease (ESKD) requiring dialysis treatment. Despite ESKD she still depends on regular plasma infusions to prevent thrombocytopenia. The long-term treatment plan for this patient is challenging. Renal transplantation in patients with the S1191L mutation of the CFH gene carries a high risk of failure due to recurrence of aHUS in the renal graft. Thus, the only available curative treatment seems to be combined liver–kidney transplantation, covered by intensive plasma therapy, which comes with a high risk of morbidity and mortality. Antibodies against key activating components of the complement cascade may provide a promising alternative therapeutic strategy in the future. Eculizumab, a monoclonal humanized anti-C5 antibody, has recently been shown to be effective and well-tolerated in patients with paroxysmal nocturnal hemoglobinuria by preventing complement-mediated lysis of affected erythrocytes. Treatment of our patient with eculizumab is supported by recent reports on its successful use in two (pediatric and adult) patients with complement-based aHUS. Keywords Atypical hemolytic uremic syndrome - Eculizumab - Plasma therapy
机译：非典型溶血性尿毒症综合征（aHUS）已与替代补体途径的调节不良有关。尽管建议使用血浆疗法，但在最佳治疗方案上几乎没有共识。尽管我们对aHUS病理学的了解有所改善，但在许多情况下结果仍然很差。我们在15年内追踪了一名女性aHUS与杂合补体因子H（CFH）突变（S1191L）相关的患者。她从婴儿期开始就一直依赖血浆，后来发展为需要透析治疗的终末期肾脏疾病（ESKD）。尽管有ESKD，她仍需定期输注血浆以预防血小板减少。该患者的长期治疗计划具有挑战性。 CFH基因具有S1191L突变的患者进行肾移植会由于肾移植物中aHUS的复发而导致失败的风险很高。因此，唯一可行的治疗方法似乎是联合肝肾移植，并接受密集的血浆治疗，这具有很高的发病率和死亡率风险。针对补体级联关键激活成分的抗体可能会在将来提供有希望的替代治疗策略。依库丽单抗，一种单克隆人源化抗C5抗体，最近通过预防补体介导的受影响红细胞溶解，在阵发性夜间血红蛋白尿患者中有效且耐受良好。最近有报道称依库丽单抗成功用于两名（小儿和成人）补体为主的aHUS患者中，从而治疗了依库丽单抗。关键词非典型溶血性尿毒症综合征-Eculizumab-血浆治疗

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