Service de Pédiatrie, Hôpital Pellegrin-Enfants, Centre Hospitalier Universitaire, Bordeaux, France.
Pediatr Nephrol. 2011 Apr;26(4):631-5. doi: 10.1007/s00467-010-1721-9. Epub 2010 Dec 15.
Thrombotic microangiopathies comprise different entities, including hemolytic uremic syndrome (HUS), thrombotic thrombocytopenic purpura (TTP), and several other conditions. TTP is characterized by hemolytic anemia, thrombocytopenia, and multiorgan failure. TTP is the result of severe von Willebrand factor multimer cleaving protease (ADAMTS13) deficiency that is either inherited or the result of acquired autoantibodies. We report a critically ill 2-year-old girl with invasive pneumococcal disease associated HUS (p-HUS) whose condition was complicated by severe ADAMTS13 deficiency, without detectable inhibitor, in a context of multiple organ failure. The patient recovered with supportive treatment, and ADAMTS13 activity normalized without plasmatherapy. Severe ADAMTS13 deficiency appears to be a manifestation of transient endothelial cell injury in the context of severe sepsis, including invasive p-HUS. The choice of appropriate therapy should not be based on this finding.
血栓性微血管病包括不同的疾病实体，包括溶血性尿毒症综合征（HUS）、血栓性血小板减少性紫癜（TTP）和其他几种疾病。TTP 的特征是溶血性贫血、血小板减少和多器官衰竭。TTP 是由于严重的 von Willebrand 因子多聚体裂解蛋白酶（ADAMTS13）缺乏引起的，这种缺乏可能是遗传性的，也可能是获得性自身抗体的结果。我们报告了一例患有侵袭性肺炎球菌病相关 HUS（p-HUS）的危重症 2 岁女孩，其病情因严重的 ADAMTS13 缺乏而复杂化，且缺乏可检测的抑制剂，同时伴有多器官衰竭。该患者接受支持性治疗后康复，ADAMTS13 活性在未进行血浆治疗的情况下恢复正常。严重的 ADAMTS13 缺乏似乎是严重脓毒症包括侵袭性 p-HUS 时内皮细胞一过性损伤的表现。选择适当的治疗方法不应基于这一发现。
