Hemolytic Uremic Syndrome

Hemolytic uremic syndrome (HUS) is a rare disease which affects mostly small vessels and arteries of the human body, which are occluded by thrombi and in which the endothelial lining of the vessels is damaged. Thereby, the blood flow is blocked and the surrounding tissue is not properly supplied with nutrients and oxygen. HUS frequently affects the vessels or arteries in the kidney, however, other organs and tissues  may also be involved. HUS has different causes and triggers. Infections with enterohemorrhagic Escherichia coli (EHEC)  are a frequent cause of the disease  and are associated with gene mutations which affect regulators and components of the complement system. A third form includes the formation of autoantibodies which are frequently directed to the C terminal recognition region of the complement regulator Factor H. Most juvenile patients develop autoantibodies on bases of the homozygous deletion of a chromosomal segment, which includes the human CFRH3-CFHR1 genes. Understanding the various causes that result in pathology is relevant to define disease severity, to identify variants of the disease, to differentiate the prognosis for therapy and for the function of a transplanted kidney.