Postoperative atypical hemolytic uremic syndrome associated with complement c3 mutation.
Postoperative atypical hemolytic uremic syndrome associated with complement c3 mutation.
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DOI：
10.1155/2014/784943
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发表时间：
2014
影响因子：
--
通讯作者：
Kuwahara T
中科院分区：
文献类型：
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作者：
Matsukuma E;Imamura A;Iwata Y;Takeuchi T;Yoshida Y;Fujimura Y;Fan X;Miyata T;Kuwahara T
非典型溶血性尿毒症综合征(aHUS)可与典型或志贺样毒素引起的溶血性尿毒症区分开来。临床结果不佳；高达50%的受影响患者进展为终末期肾衰竭，25%在急性期死亡。多种情况与aHUS相关，包括感染、药物、自身免疫性疾病、移植、妊娠和代谢疾病。然而，在非移植术后，aHUS是罕见的。一个8个月大的男孩接受了法洛四联症的手术修复。25天后出现神经障碍、急性肾功能衰竭、血小板减少症和微血管病溶血性贫血，诊断为aHUS。进一步检查显示补体因子H （CFH）水平正常，血浆中未检出抗CFH抗体。他的CFH、补体因子I、膜辅因子蛋白、补体因子B和血栓调节蛋白基因测序正常。他的ADAMTS-13（一种具有血小板反应蛋白-1重复13的崩解素样和金属蛋白酶）活性也正常。然而，他在补体成分C3中有潜在的致病突变（R425C）。限制性内切片段长度多态性分析显示其父亲和姨妈也有该突变；然而，他们没有aHUS的症状。我们在此报告一例在心血管手术后发生的由补体C3突变引起的aHUS。
Atypical hemolytic uremic syndrome (aHUS) can be distinguished from typical or Shiga-like toxin-induced HUS. The clinical outcome is unfavorable; up to 50% of affected patients progress to end-stage renal failure and 25% die during the acute phase. Multiple conditions have been associated with aHUS, including infections, drugs, autoimmune conditions, transplantation, pregnancy, and metabolic conditions. aHUS in the nontransplant postsurgical period, however, is rare. An 8-month-old boy underwent surgical repair of tetralogy of Fallot. Neurological disturbances, acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia developed 25 days later, and aHUS was diagnosed. Further evaluation revealed that his complement factor H (CFH) level was normal and that anti-FH antibodies were not detected in his plasma. Sequencing of his CFH, complement factor I, membrane cofactor protein, complement factor B, and thrombomodulin genes was normal. His ADAMTS-13 (a disintegrin-like and metalloprotease with thrombospondin-1 repeats 13) activity was also normal. However, he had a potentially causative mutation (R425C) in complement component C3. Restriction fragment length polymorphism analysis revealed that his father and aunt also had this mutation; however, they had no symptoms of aHUS. We herein report a case of aHUS that developed after cardiovascular surgery and was caused by a complement C3 mutation.