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Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report
Abdul Muhsen Abdeen1, Jowan Al-Nusair1, Malik Samardali1
1Marshall University, Huntington, WV, USA.
Journal of Investigative Medicine High Impact Case Reports
|January 28, 2025
Summary
A rare genetic mutation in the membrane cofactor protein (MCP/CD46) caused severe thrombotic microangiopathy (TMA) in a young male. Early genetic testing and targeted complement inhibition improved patient outcomes.
Area of Science:
- Nephrology
- Hematology
- Genetics
Background:
- Thrombotic microangiopathy (TMA) is a serious condition involving anemia, low platelets, and organ damage, frequently affecting the kidneys.
- Complement-mediated hemolytic uremic syndrome (cHUS), a TMA subtype, results from abnormal complement pathway activation, often due to genetic factors.
Purpose of the Study:
- To report a case of TMA secondary to a membrane cofactor protein (MCP/CD46) gene mutation.
- To highlight the diagnostic and therapeutic implications of genetic testing in TMA.
Main Methods:
- Case report of a 23-year-old male with TMA.
- Diagnostic evaluation including renal biopsy and genetic testing.
- Treatment with eculizumab, plasmapheresis, and hemodialysis.
Main Results:
- The patient presented with severe TMA, acute kidney injury, uremic pericarditis, and anemia.
- Genetic testing revealed a heterozygous MCP/CD46 mutation, confirming complement dysregulation.
- Renal biopsy showed characteristic TMA pathology.
Conclusions:
- Genetic predispositions play a crucial role in TMA development and diagnosis.
- Targeted complement inhibition, like eculizumab, is effective in managing MCP/CD46-associated TMA.
- Individualized care strategies guided by genetic insights can improve patient prognosis.
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