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Humangenetik beim atypischen hämolytisch-urämischen Syndrom ­ Rolle in Diagnostik und Therapie. / [Human genetics in atypical hemolytic uremic syndrome-its role in diagnosis and treatment].

Knoop, M; Haller, H; Menne, J.
Internist (Berl); 59(8): 799-804, 2018 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-29995248
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.
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