Saito Daiki, Watanabe Eizo, Ashida Akira, Kato Hideki, Yoshida Yoko, Nangaku Masaomi, Ohtsuka Yasufumi, Miyata Toshiyuki, Hattori Noriyuki, Oda Shigeto
Department of Emergency and Critical Care Medicine, Graduate School of Medicine, Chiba University, Chiba, Japan.
Department of Emergency and Critical Care Medicine, Eastern Chiba Medical Center, Togane, Japan.
Crit Care Explor. 2019 Apr 17;1(4):e0008. doi: 10.1097/CCE.0000000000000008. eCollection 2019 Apr.
To describe a case of atypical hemolytic uremic syndrome induced by influenza A infection with the p.Ile1157Thr C3 mutation.
Clinical observations of a patient.
Case reports.
Data extracted from medical records, after patient's consent.
Four days prior to presentation to our hospital, a 16-year-old adolescent had a fever and arthralgia with hematuria. He was found to be positive for type A influenza and prescribed oseltamivir and acetaminophen by a primary-care physician. A bleeding tendency and purpura in the extremities and on the trunk developed; therefore, he was transferred to Chiba University Hospital. Hematology revealed severe thrombocytopenia, hyperbilirubinemia, and acute kidney injury. Aspartate aminotransferase, lactate dehydrogenase, and potassium could not be determined because of severe hemolysis. Highly elevated blood urea nitrogen and creatinine levels indicated acute kidney injury. A platelet count of 24,000/μL indicated thrombocytopenia, with low hemoglobin level. Peripheral blood profiling identified schistocytes. Continuous hemodiafiltration and plasma infusion were initiated immediately; however, he became oliguric. Plasma exchange was initiated on ICU day 3, but decreased urine output, hemolysis, and thrombocytopenia persisted. IV eculizumab therapy was initiated on day 7 and resulted in recovery of these symptoms and also successful discontinuation of renal support. The patient showed a stable condition without recurrence of hemolytic findings and acute kidney injury and is currently on maintenance therapy of eculizumab (1,200 mg, every other week) without any relapse of atypical hemolytic uremic syndrome symptoms. A plasma sample collected prior to initiation of plasma exchange showed an disintegrin-like and metalloprotease with thrombospondin type 1 motifs 13 activity level of 104.9%. The absence of both Shiga toxin-producing in feces led to suspicion of atypical hemolytic uremic syndrome. Subsequent genetic analysis identified a mutation in (p.Ile1157Thr), confirming the diagnosis of atypical hemolytic uremic syndrome.
Although managing thrombocytopenia secondary to infection, inclusion of atypical hemolytic uremic syndrome in the differential diagnosis at an early stage is important in clinical practice.
描述1例由甲型流感感染诱发且伴有p.Ile1157Thr C3突变的非典型溶血尿毒综合征病例。
对1例患者的临床观察。
病例报告。
经患者同意后从病历中提取数据。
在我院就诊前4天，一名16岁青少年出现发热、关节痛伴血尿。他被检测出甲型流感阳性，初级保健医生为其开了奥司他韦和对乙酰氨基酚。随后出现出血倾向以及四肢和躯干紫癜；因此，他被转诊至千叶大学医院。血液学检查显示严重血小板减少、高胆红素血症和急性肾损伤。由于严重溶血，天冬氨酸转氨酶、乳酸脱氢酶和钾无法测定。血尿素氮和肌酐水平大幅升高表明存在急性肾损伤。血小板计数为24,000/μL表明血小板减少，血红蛋白水平较低。外周血涂片检查发现裂体细胞。立即开始持续血液透析滤过和血浆输注；然而，他出现了少尿。在重症监护病房第3天开始进行血浆置换，但少尿、溶血和血小板减少仍持续存在。在第7天开始静脉注射依库珠单抗治疗，这些症状得到缓解，肾脏支持治疗也成功停用。患者病情稳定，未出现溶血表现和急性肾损伤复发，目前正在接受依库珠单抗维持治疗（1200毫克，每隔一周一次），非典型溶血尿毒综合征症状未再复发。在开始血浆置换前采集的一份血浆样本显示，具有血小板反应蛋白基序的解整合素样金属蛋白酶13活性水平为104.9%。粪便中未检测到产志贺毒素，这引发了对非典型溶血尿毒综合征的怀疑。随后的基因分析确定了（p.Ile1157Thr）突变，确诊为非典型溶血尿毒综合征。
在临床实践中，尽管要处理继发于感染的血小板减少，但早期将非典型溶血尿毒综合征纳入鉴别诊断很重要。
