Atypical hemolytic-uremic syndrome (aHUS) is a disease characterized by a triad of manifestations: microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. This disease is a consequence of alterations in the
regulation of the activation of the complement system on the cell surface, leading to endothelial damage mediated by C5 and the terminal complement pathway. Therefore, events that activate the complement system lead to its
continuous, unrestricted activity, causing generalized endothelial cell injury. Pathogenic mutations include those that result in loss of function of a complement regulatory gene (CFH, CFI, CD46, or THBD) or gain of function of an effector gene (CFB or C3), as well as pathogenic mutations in more than two genes associated with the same pathway. Apart
from studying genes associated with the pathways of the complement system, differential diagnosis of overlapping disease phenotypes must also be included.
Through ClientSite you can filter variants and download your reports