Kichloo Asim, Chugh Savneek Singh, Gupta Sanjeev, Pandav Jay, Chander Praveen
1 CMU Medical Education Partners, Saginaw, MI, USA.
2 Westchester Medical Center, Valhalla, NY, USA.
J Investig Med High Impact Case Rep. 2019 Jan-Dec;7:2324709619842905. doi: 10.1177/2324709619842905.
Atypical hemolytic uremic syndrome (aHUS) is a rare disorder of uncontrolled complement activation that manifests classically as anemia, thrombocytopenia, and renal failure, although extrarenal manifestations are observed in 20% of the patient most of which involving central nervous system, with relatively rare involvement of the heart. In this article, we report the case of a 24-year-old male with no history of heart disease presenting with acute systolic heart failure along with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Given his presentation of thrombotic microangiopathy (TMA), along with laboratory results significant for low haptoglobin, platelets, hemoglobin, C3, C4, CH50, and normal ADAMTS13 levels, with no diarrhea and negative STEC polymerase chain reaction in stool, aHUS diagnosis was established with strong clinical suspicion, and immediate initiation of treatment was advised. Kidney biopsy to confirm diagnosis of aHUS was inadvisable because of thrombocytopenia, so the skin biopsy of a rash on his arm was done, which came to be consistent with thrombotic microangiopathy. Our case highlights a relatively rare association between aHUS and cardiac involvement, and the use of skin biopsy to support diagnosis of aHUS in patients who cannot undergo renal biopsy because of thrombocytopenia.
非典型溶血性尿毒症综合征（aHUS）是一种罕见的不受控制的补体激活紊乱疾病，典型表现为贫血、血小板减少和肾衰竭，尽管20%的患者有肾外表现，其中大多数累及中枢神经系统，累及心脏的情况相对少见。在本文中，我们报告了一例24岁无心脏病史的男性患者，其表现为急性收缩性心力衰竭，同时伴有微血管病性溶血性贫血、血小板减少和急性肾损伤。鉴于其血栓性微血管病（TMA）的表现，以及实验室检查结果显示触珠蛋白、血小板、血红蛋白、C3、C4、CH50水平低且ADAMTS13水平正常，且无腹泻且粪便中STEC聚合酶链反应阴性，临床高度怀疑为aHUS并确诊，建议立即开始治疗。由于血小板减少，进行肾活检以确诊aHUS并不可取，因此对其手臂上的皮疹进行了皮肤活检，结果与血栓性微血管病一致。我们的病例突出了aHUS与心脏受累之间相对罕见的关联，以及在因血小板减少而无法进行肾活检的患者中使用皮肤活检来支持aHUS的诊断。
