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首页> 外文期刊>Case Reports in Nephrology >Deterioration in Clinical Status Is Not Enough to Suspend Eculizumab: A Genetic Complement-Mediated Atypical Hemolytic Uremic Syndrome Case Report
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Deterioration in Clinical Status Is Not Enough to Suspend Eculizumab: A Genetic Complement-Mediated Atypical Hemolytic Uremic Syndrome Case Report

机译：临床状态的恶化是暂停生态灭绝的不足：遗传补充介导的非典型溶血性尿毒症案例报告

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Background. Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. Mutations in CFI gene coding for complement regulation factors and in THBD gene coding for endothelial cell receptor thrombomodulin could predispose to the disease and hypertension can trigger the onset. Case Presentation. A 51-year-old female patient who had received kidney transplant eighteen years ago presented with hypertensive peak and hemolysis pattern. Normal ADAMTS13 levels as well as negative culture and serology for Shiga-toxin excluded, respectively, thrombotic thrombocytopenic purpura (TTP) and typical HUS caused by Shiga toxin-producing Escherichia coli (STEC-HUS). In suspicion of aHUS, we administered eculizumab and hemodialysis sessions were started as the patient showed severe renal failure. After an initial response, the patient developed cerebral hemorrhage. After last eculizumab administration, according to hematological parameters, an unsatisfactory response was observed: given the worsening clinical scenario, we withdrew eculizumab. Pathogenic mutations in CFI and THBD genes were found. After eculizumab reinitiation, looking at hemolysis indexes, we observed a suboptimal response as well as an otherwise adequate renal one: renal graft function was recovered despite persistence of hemolysis signs, after 6 months on regular dialysis. Conclusion. For the first time, we report an aHUS case in which a peculiar combination of mutations in CFI and THBD is found. We describe the importance of continuing eculizumab despite deterioration of patient’s clinical conditions.
机译：背景。非典型溶血性尿毒症综合征（AHUS）的特征在于微观致病溶血性贫血，血小板减少症和肾功能衰竭。编码补体调节因子和编码内皮细胞受体血栓调节蛋白的CFI基因的突变可以易于疾病，高血压可以引发发作。案例演示。在十八年前接受肾移植的51岁女性患者呈现高血压峰和溶血模式。正常的Adamts13水平以及滋阴的阴性培养和血清学分别被排除，分别是血栓形成血小板细胞紫癜（TTP）和由Shiga毒素的大肠杆菌（Stec-Hus）引起的典型HUS。涉嫌Ahus，我们施用生态蛋白酶和血液透析会话，因为患者表现出严重的肾功能衰竭。在初始反应之后，患者发育了脑出血。在最后一次生态毒液管理后，根据血液学参数，观察到不令人满意的反应：鉴于临床情景恶化，我们退出了生态灭绝。发现CFI和THBD基因中的致病性突变。仿毒素再溶解溶血指数后，我们观察到次优响应以及其他适当的肾脏，尽管常规透析后6个月后，尽管血压溶质持续存在肾移植功能。结论。我们首次报告了Ahus案例，其中发现了CFI和THBD中的突变的特殊组合。尽管患者的临床状况恶化，但我们描述了持续生态灭绝的重要性。

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