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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| Format: | Article |
| Language: | English |
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Springer
2025-04-01
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| Series: | Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1007/s44162-025-00072-3 |
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| _version_ | 1849769709737607168 |
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| author | George N. Zsidisin |
| author_facet | George N. Zsidisin |
| author_sort | George N. Zsidisin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2b0b807e4db54ba2aa6d9d4997b0360d |
| institution | DOAJ |
| issn | 2731-085X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Rare Diseases |
| spelling | doaj-art-2b0b807e4db54ba2aa6d9d4997b0360d2025-08-20T03:03:20ZengSpringerJournal of Rare Diseases2731-085X2025-04-01411610.1007/s44162-025-00072-3Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanismsGeorge N. Zsidisin0Clinical Institute of Fundeni Nephrology Department, Carol Davila University of Medicine and PharmacyAbstract 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.https://doi.org/10.1007/s44162-025-00072-3Atypical hemolytic uremic syndromePlatelet activationThrombinPhagocytosisNETosisComplement proteins |
| spellingShingle | George N. Zsidisin Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms Journal of Rare Diseases Atypical hemolytic uremic syndrome Platelet activation Thrombin Phagocytosis NETosis Complement proteins |
| title | Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms |
| title_full | Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms |
| title_fullStr | Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms |
| title_full_unstemmed | Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms |
| title_short | Atypical hemolytic uremic syndrome: a case report and review of thrombotic mechanisms |
| title_sort | atypical hemolytic uremic syndrome a case report and review of thrombotic mechanisms |
| topic | Atypical hemolytic uremic syndrome Platelet activation Thrombin Phagocytosis NETosis Complement proteins |
| url | https://doi.org/10.1007/s44162-025-00072-3 |
| work_keys_str_mv | AT georgenzsidisin atypicalhemolyticuremicsyndromeacasereportandreviewofthromboticmechanisms |