Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
Washington University in St. Louis · Azienda Ospedaliero Universitaria Ospedali Riuniti · +1 more institution
Abstract
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non-Shiga toxin-associated HUS (non-Stx-HUS). We undertook genetic analysis on membrane cofactor protein (MCP), complement factor H (CFH), and factor I (IF) in 156 patients with non-Stx-HUS. Fourteen, 11, and 5 new mutational events were found in MCP, CFH, and IF, respectively. Mutation frequencies were 12.8%, 30.1%, and 4.5% for MCP, CFH, and IF, respectively. MCP mutations resulted in either reduced protein expression or impaired C3b binding capability. MCP-mutated patients had…
Citation impact
- FWCI
- 13.60
- Percentile
- 100%
- References
- 54
Authors
19- JCJessica CaprioliCorresponding
Washington University in St. Louis, Azienda Ospedaliero Universitaria Ospedali Riuniti, Newcastle University
- MNMarina Noris
Washington University in St. Louis, Azienda Ospedaliero Universitaria Ospedali Riuniti, Newcastle University
- SBSimona Brioschi
Washington University in St. Louis, Azienda Ospedaliero Universitaria Ospedali Riuniti, Newcastle University
- GPGaia Pianetti
Washington University in St. Louis, Azienda Ospedaliero Universitaria Ospedali Riuniti, Newcastle University
- FCFederica Castelletti
Washington University in St. Louis, Azienda Ospedaliero Universitaria Ospedali Riuniti, Newcastle University
Topics & keywords
- Factor H
- Thrombotic microangiopathy
- Complement factor I
- Atypical hemolytic uremic syndrome
- Microangiopathic hemolytic anemia
- Immunology
- CD46
- Medicine