Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report
Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pa...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2025-01-01
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| Series: | Journal of Investigative Medicine High Impact Case Reports |
| Online Access: | https://doi.org/10.1177/23247096251316364 |
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| author | Abdul Muhsen Abdeen MD Jowan Al-Nusair MD Malik Samardali MD Mohamed Alshal MD Amro Al-Astal MD Zeid Khitan MD |
| author_facet | Abdul Muhsen Abdeen MD Jowan Al-Nusair MD Malik Samardali MD Mohamed Alshal MD Amro Al-Astal MD Zeid Khitan MD |
| author_sort | Abdul Muhsen Abdeen MD |
| collection | DOAJ |
| description | Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene. The patient exhibited severe renal and cardiovascular complications, including acute kidney injury requiring hemodialysis, uremic pericarditis, and persistent anemia. Diagnostic evaluation confirmed complement dysregulation, and management with eculizumab, plasmapheresis, and hemodialysis was initiated. Renal biopsy revealed classic TMA features, and genetic testing identified the MCP mutation, underscoring the importance of genetic predispositions in guiding diagnosis and therapy. This case emphasizes the critical role of genetic testing in TMA evaluation and highlights the potential for improved outcomes through targeted complement inhibition and individualized care strategies. |
| format | Article |
| id | doaj-art-b0dbbffacd664fd2bfb23d8268c6a0ad |
| institution | Kabale University |
| issn | 2324-7096 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of Investigative Medicine High Impact Case Reports |
| spelling | doaj-art-b0dbbffacd664fd2bfb23d8268c6a0ad2025-01-28T07:03:19ZengSAGE PublishingJournal of Investigative Medicine High Impact Case Reports2324-70962025-01-011310.1177/23247096251316364Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case ReportAbdul Muhsen Abdeen MD0Jowan Al-Nusair MD1Malik Samardali MD2Mohamed Alshal MD3Amro Al-Astal MD4Zeid Khitan MD5Marshall University, Huntington, WV, USAMarshall University, Huntington, WV, USAMarshall University, Huntington, WV, USAMarshall University, Huntington, WV, USAMarshall University, Huntington, WV, USAMarshall University, Huntington, WV, USAThrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene. The patient exhibited severe renal and cardiovascular complications, including acute kidney injury requiring hemodialysis, uremic pericarditis, and persistent anemia. Diagnostic evaluation confirmed complement dysregulation, and management with eculizumab, plasmapheresis, and hemodialysis was initiated. Renal biopsy revealed classic TMA features, and genetic testing identified the MCP mutation, underscoring the importance of genetic predispositions in guiding diagnosis and therapy. This case emphasizes the critical role of genetic testing in TMA evaluation and highlights the potential for improved outcomes through targeted complement inhibition and individualized care strategies.https://doi.org/10.1177/23247096251316364 |
| spellingShingle | Abdul Muhsen Abdeen MD Jowan Al-Nusair MD Malik Samardali MD Mohamed Alshal MD Amro Al-Astal MD Zeid Khitan MD Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report Journal of Investigative Medicine High Impact Case Reports |
| title | Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report |
| title_full | Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report |
| title_fullStr | Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report |
| title_full_unstemmed | Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report |
| title_short | Complement-Mediated Hemolytic Uremic Syndrome Due to MCP/CD46 Mutation: A Case Report |
| title_sort | complement mediated hemolytic uremic syndrome due to mcp cd46 mutation a case report |
| url | https://doi.org/10.1177/23247096251316364 |
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