Alonso Valente Rafael, García Rodríguez Giannina Elena, García Marcote Yanina, Fidalgo Díaz Manuel, Becerra Mosquera Vanesa, Novoa García Daniel, Cordal Martínez Teresa, Díaz Rodríguez Cándido
Nephrology Department, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
Case Rep Nephrol Dial. 2017 Mar 2;7(1):18-25. doi: 10.1159/000457950. eCollection 2017 Jan-Apr.
Atypical hemolytic-uremic syndrome is caused by a thrombotic microangiopathy and manifests itself with hemolytic anemia, thrombocytopenia, and organ ischemia. Its etiology is a mutation affecting the genes encoding for proteins of the complement system. Early treatment with eculizumab (8.6 months from the moment of presentation), a humanized monoclonal antibody against complement, is shown to be effective in controlling symptoms and reversing organ damage. We present a patient with a mutation not previously described in the literature. Late treatment with eculizumab resulted in a good therapeutic response, eliminating the need for peritoneal dialysis.
A 34-year-old woman showed symptoms and laboratory findings consistent with atypical hemolytic-uremic syndrome. Genetic analysis revealed an unusual mutation of the complement regulatory gene not seen previously. Due to unavailability of eculizumab at the time of presentation, conventional treatment was started with poor response. Late initiation of eculizumab resulted in discontinuation of peritoneal dialysis and yielded a good and sustained clinical response.
This case shows that eculizumab treatment for patients with atypical hemolytic-uremic syndrome, even when initiated many months after beginning on dialysis, might offer substantial benefits and improve the patients' quality of life.
非典型溶血尿毒综合征由血栓性微血管病引起，表现为溶血性贫血、血小板减少和器官缺血。其病因是影响补体系统蛋白编码基因的突变。早期使用依库珠单抗（从出现症状起8.6个月）治疗，依库珠单抗是一种抗补体的人源化单克隆抗体，已证明对控制症状和逆转器官损伤有效。我们报告一名具有文献中未先前描述的突变的患者。晚期使用依库珠单抗治疗产生了良好的治疗反应，无需进行腹膜透析。
一名34岁女性表现出与非典型溶血尿毒综合征一致的症状和实验室检查结果。基因分析发现了一种先前未见的补体调节基因异常突变。由于就诊时无法获得依库珠单抗，开始了常规治疗，但反应不佳。晚期开始使用依库珠单抗导致停止腹膜透析，并产生了良好且持续的临床反应。
该病例表明，对于非典型溶血尿毒综合征患者，即使在开始透析数月后才开始使用依库珠单抗治疗，也可能带来显著益处并改善患者生活质量。
