Centre de néphrologie et transplantation rénale, AP-HM, Hôpital de la Conception, Université de la Méditerranée, Marseille, France.
Nephrol Dial Transplant. 2010 Jun;25(6):2028-32. doi: 10.1093/ndt/gfq160. Epub 2010 Mar 19.
Cardiac complications are frequently seen in thrombotic thrombocytopaenic purpura related to ADAMTS13 deficiency. We describe the case of a 43-year-old woman who was diagnosed with an atypical haemolytic-uraemic syndrome (aHUS) associated with a pathogenic mutation in the factor H gene (C623S). After 15 days of treatment, she suffered a sudden cardiac arrest and died despite intensive resuscitation attempts. She showed only one cardiovascular risk factor, hypercholesterolaemia. Her sudden death was secondary to cardiac infarction related to a coronary thrombotic microangiopathy. This is the first case of aHUS related to a mutation in the factor H gene associated with cardiac microangiopathy. This case emphasizes the need to screen for cardiac complication during the treatment of aHUS.
心脏并发症在与 ADAMTS13 缺乏相关的血栓性血小板减少性紫癜中经常出现。我们描述了一例 43 岁女性病例，该患者被诊断为与因子 H 基因（C623S）致病性突变相关的非典型溶血性尿毒综合征（aHUS）。在治疗 15 天后，她突发心脏骤停，尽管进行了强化复苏尝试，仍不幸死亡。她只有一个心血管危险因素，即高胆固醇血症。她的猝死是继发于与冠状动脉血栓性微血管病相关的心肌梗死。这是首例与因子 H 基因突变相关的 aHUS 合并心脏微血管病的病例。该病例强调了在治疗 aHUS 期间需要筛查心脏并发症。
