Knoop M, Haller H, Menne J
Klinik für Nieren- und Hochdruckerkrankungen, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.
Internist (Berl). 2018 Aug;59(8):799-804. doi: 10.1007/s00108-018-0455-9.
The atypical hemolytic uremic syndrome (aHUS), one of the three major forms of thrombotic microangiopathy, is characterized by genetic alterations in the area of the complement cascade, which can be detected in 40%-60% of all patients with aHUS. Mutations in over 10 different genes have now been identified. The most frequent and clinically relevant of these are mutations that result in a decreased or absent function of factor H, the formation of hybrid genes, or the formation of autoantibodies against factor H. Although genetics are not required for the diagnosis of aHUS, it is of great importance for the decision on how long to treat with the C5 inhibitor eculizumab. Also, knowledge of genetic alterations is absolutely essential if a living related donor is considered, in order to protect the living donor and recipient from developing aHUS.
非典型溶血性尿毒症综合征（aHUS）是血栓性微血管病的三种主要形式之一，其特征是补体级联区域的基因改变，在所有aHUS患者中，40%-60%可检测到这种改变。目前已鉴定出10多种不同基因的突变。其中最常见且与临床相关的是导致因子H功能降低或缺失、形成杂交基因或形成抗因子H自身抗体的突变。虽然aHUS的诊断不需要遗传学检测，但对于决定使用C5抑制剂依库珠单抗治疗多长时间非常重要。此外，如果考虑活体亲属供体，了解基因改变绝对必要，以保护活体供体和受体不发生aHUS。
