An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome.

Abstract excerpt

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney failure. The disease is difficult to diagnose due to its similarity with other hematologic disorders, such as thrombotic thrombocytopenic purpura (TTP). However, genetic mutations are found in 50-70% of patients with aHUS and can be useful in its diagnosis....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acute Kidney Injury
• Share to Antibodies, Monoclonal, Humanized