Quiroga Borja, de Lorenzo Alberto, Vega Cristina, de Alvaro Fernando
Nephrology Unit, HM Hospitals, Madrid, Spain.
Nephrology Unit, HM Hospitales, Madrid, Spain.
Am J Case Rep. 2016 Dec 15;17:950-956. doi: 10.12659/ajcr.899764.
BACKGROUND Recent advances in the treatment of atypical hemolytic-uremic syndrome (aHUS) have resulted to better long-term survival rates for patients with this life-threatening disease. However, many questions remain such as whether or not long-term treatment is necessary in some patients and what are the risks of prolonged therapy. CASE REPORT Here, we discuss the case of a 37-year-old woman with CFH and CD46 genetic abnormalities who developed aHUS with severe renal failure. She was successfully treated with three doses of rituximab and a three month treatment with eculizumab. After eculizumab withdrawal, symptoms of thrombotic micro-angiopathy (TMA) recurred, therefore eculizumab treatment was restarted. The patient exhibited normal renal function and no symptoms of aHUS at one-year follow-up with further eculizumab treatment. CONCLUSIONS This case highlights the clinical challenges of the diagnosis and management of patient with aHUS with complement-mediated TMA involvement. Attention was paid to the consequences of the treatment withdrawal. Exact information regarding genetic abnormalities and renal function associated with aHUS, as well as estimations of the relapse risk and monitoring of complement tests may provide insights into the efficacy of aHUS treatment, which will enable the prediction of therapeutic responses and testing of new treatment options. Improvements in our understanding of aHUS and its causes may facilitate the identification of patients in whom anti-complement therapies can be withdrawn without risk.
背景 非典型溶血尿毒综合征（aHUS）治疗方面的最新进展已使患有这种危及生命疾病的患者获得了更好的长期生存率。然而，仍存在许多问题，例如某些患者是否需要长期治疗以及长期治疗的风险是什么。病例报告 在此，我们讨论一名37岁患有CFH和CD46基因异常的女性病例，她发展为伴有严重肾衰竭的aHUS。她接受了三剂利妥昔单抗治疗，并使用依库珠单抗治疗了三个月，治疗成功。停用依库珠单抗后，血栓性微血管病（TMA）症状复发，因此重新开始依库珠单抗治疗。在进一步接受依库珠单抗治疗的一年随访中，患者肾功能正常且无aHUS症状。结论 本病例突出了伴有补体介导的TMA累及的aHUS患者诊断和管理的临床挑战。关注了治疗停药的后果。有关与aHUS相关的基因异常和肾功能的确切信息，以及复发风险评估和补体检测监测，可能会为aHUS治疗的疗效提供见解，这将有助于预测治疗反应并测试新的治疗方案。我们对aHUS及其病因认识的提高可能有助于识别那些可以无风险停用抗补体疗法的患者。
