Molecular genetic diagnosis of atypical hemolytic uremic syndrome

Atypical hemolytic-uremic syndrome (aHUS) and C3 glomerulopathy (C3G) are diseases the pathogenesis of which is based on pathology of the complement system. aHUS is a systemic disease from the group of thrombotic microangiopathies (TMA), in which there is uncontrolled activation of the alternative complement pathway, leading to generalized thrombosis in the vessels of the microcirculatory bed. It is characterized by acute kidney injury, consumption thrombocytopenia, and microangiopathic hemolytic anemia. When establishing a diagnosis, it is necessary to exclude other variants of TMA. C3G is a rare, severe kidney disease that is diagnosed based on specific changes in a kidney biopsy in the form of predominant deposition of the C3 complement component on immunofluorescence. At least 50% of patients with aHUS and C3G have a genetically determined form of the disease.

Within 11 days. The specified time does not include the day of biomaterial collection