Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms
Abstract Using specific clinical analyses, including genetic, hemolytic, blood, and disease manifestations, leads to a unique hypothesis about our patient’s atypical hemolytic uremic syndrome pathophysiology. Notably, a novel C3 defect, in addition to a common factor B mutation, leads to doubt over...
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| Main Author: | |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2025-04-01
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| Series: | Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s44162-025-00072-3 |
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| Summary: | Abstract Using specific clinical analyses, including genetic, hemolytic, blood, and disease manifestations, leads to a unique hypothesis about our patient’s atypical hemolytic uremic syndrome pathophysiology. Notably, a novel C3 defect, in addition to a common factor B mutation, leads to doubt over current theories of alternative complement overactivation and further drives focus onto the thrombotic nature of the disease. We propose a pathology of defective platelet-leukocyte-endothelial adhesions, leading to poor leukocyte extravasation. |
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| ISSN: | 2731-085X |