Mussoni Maria Pia, Veneziano F A, Boetti L, Tassi C, Calisesi C, Nucci S, Rigotti A, Panzini I, Ardissino G
U.O. Immunohematology and Transfusion Medicine, Rimini AUSL Romagna.
U.O. Immunohematology and Transfusion Medicine, Rimini AUSL Romagna.
Transfus Apher Sci. 2014 Oct;51(2):134-6. doi: 10.1016/j.transci.2014.08.027. Epub 2014 Sep 16.
The atypical HUS (aHUS) is a rare genetic disease, with poor prognosis, characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. This syndrome is often related to mutations in the genes encoding complement regulatory proteins. A 26-year-old woman with homozygous mutation in complement factor H (CFH) developed a relapse of aHUS at 17th week of pregnancy. Despite treatment with plasma exchange (PEX), at the 26th week of gestation eculizumab was started. The sequential treatment with eculizumab after PEX was well tolerated and it has led to clinical remission.
非典型溶血尿毒综合征（aHUS）是一种罕见的遗传性疾病，预后较差，其特征为微血管病性溶血性贫血、血小板减少和急性肾衰竭。该综合征常与编码补体调节蛋白的基因突变有关。一名26岁的女性，补体因子H（CFH）存在纯合突变，在妊娠第17周时aHUS复发。尽管进行了血浆置换（PEX）治疗，但在妊娠第26周时开始使用依库珠单抗。PEX后序贯使用依库珠单抗耐受性良好，并导致了临床缓解。
