Osmania Medical College, Hyderabad, Telangana, India.
Mayo Clinic, Division of Hematology, Rochester, Minnesota.
Am J Med Sci. 2018 Nov;356(5):492-498. doi: 10.1016/j.amjms.2018.05.012. Epub 2018 Jun 5.
Thrombotic microangiopathy (TMA) may result from a variety of clinical conditions, including thrombotic thrombocytopenic purpura, Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome and complement-mediated hemolytic uremic syndrome. Thrombocytopenic purpura is diagnosed when ADAMTS13 is <10%, while a diagnosis of Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome is made with the evidence of infection by Shiga toxin-producing Escherichia coli. Diagnosis of complement-mediated hemolytic uremic syndrome is not dependent on a specific laboratory test and is a diagnosis of exclusion. TMA is a rare disease and finding individuals that have more than 1 concurrent etiology leading to TMA is even more rare. Here we describe the presentation and management of an individual with CFHR1 deletion-associated TMA also found to have a positive stool Shiga toxin. We discuss the significance of Shiga toxin in serving as a trigger for development of TMA in an individual predisposed to development of TMA due to presence of a homozygous deletion in CFHR1.
血栓性微血管病（TMA）可能由多种临床情况引起，包括血栓性血小板减少性紫癜、产志贺毒素大肠杆菌相关性溶血尿毒综合征和补体介导的溶血尿毒综合征。当 ADAMTS13<10%时诊断为血小板减少性紫癜，而产志贺毒素大肠杆菌相关性溶血尿毒综合征的诊断则依据产志贺毒素大肠杆菌的感染证据。补体介导的溶血尿毒综合征的诊断不依赖于特定的实验室检查，而是一种排除性诊断。TMA 是一种罕见疾病，发现同时存在多种导致 TMA 的病因的个体更为罕见。在这里，我们描述了一名 CFHR1 缺失相关 TMA 患者的表现和治疗，该患者还发现粪便中存在志贺毒素阳性。我们讨论了志贺毒素作为 TMA 发病诱因的意义，在 CFHR1 纯合缺失导致 TMA 易感性的个体中。
