Does the underlying genetic defect impact clinical outcomes in aHUS?
Yes. CFH mutations carry the worst prognosis, with approximately 70%–80% of patients developing ESKD or dying from complications of aHUS.
Mutations in CFI, CFB, C3, and THBD have a rate of ESKD or death in the 60%–70% range. In contrast, patients with MCP mutations rarely develop ESKD or death (<20%).
Complement genetic studies are now commercially available and may be helpful to confirm the diagnosis, as well as provide prognostic information.
