In:
Medizinische Genetik, Walter de Gruyter GmbH, Vol. 30, No. 4 ( 2018-12-21), p. 400-409
Abstract:
Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by thrombocytopenia and microangiopathic hemolytic anemia due to endothelial injury. aHUS is felt to be caused by defective complement regulation due to underlying genetic mutations in complement regulators or activators, most often of the alternative pathway. Mutations causing aHUS can be subdivided into two groups, loss of function mutations (affecting factor H, factor H-related proteins, membrane co-factor protein, and factor I), and gain of function mutations (affecting factor B and C3). As more information becomes available on the relationship between specific mutations and clinical outcome, complete genetic workup of aHUS patients becomes more and more important. In this review, we will discuss the genetic background of aHUS, the role of complement for aHUS pathogenesis, and the different groups of specific mutations known to be involved in the pathogenesis of aHUS.
Type of Medium:
Online Resource
ISSN:
1863-5490
,
0936-5931
DOI:
10.1007/s11825-018-0216-0
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2018
detail.hit.zdb_id:
2163157-8
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