Atypical hemolytic-uremic syndrome: Difference between revisions
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==Background== |
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*One of the [[thrombotic microangiopathy|thrombotic microangiopathies]] |
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*Different pathophysiology and treatment from [[hemolytic-uremic syndrome|typical hemolytic-uremic syndrome]] (after STEC diarrhea) and [[secondary hemolytic-uremic syndrome]] |
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===Pathophysiology=== |
===Pathophysiology=== |
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*Congenital defect leading to dysregulation of the alternative complement pathway, which leads to increased complement activity |
*Congenital defect leading to dysregulation of the alternative complement pathway, which leads to increased complement activity |
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*Mutations can occur anywhere in the complement pathway or, occasionally, in unrelated proteins |
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**Complement factor H (CFH), C3, factor B, factor I, CD46 |
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**Diacylglycerol kinase ε, plasminogen, factor XII (in the presence of anti-factor H autoantibodies), and thrombomodulin (CD141) |
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==Diagnosis== |
==Diagnosis== |
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*Often unable to distinguish from TTP, so [[plasma exchange]] should be initiated promptly |
*Often unable to distinguish from TTP, so [[plasma exchange]] should be initiated promptly |
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*If no improvement on PLEX and there is significant renal involvement, consider |
*If no improvement on PLEX and there is significant renal involvement, consider: |
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**[[Eculizumab]] to inhibit complement |
**[[Eculizumab]] to inhibit C5 complement |
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**Ideally with full meningococcal vaccination beforehand |
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[[Category:Hematology]] |
[[Category:Hematology]] |
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[[Category:Nephrology]] |
[[Category:Nephrology]] |
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[[Category:Thrombosis]] |
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Latest revision as of 13:50, 20 April 2023
Background
- One of the thrombotic microangiopathies
- Different pathophysiology and treatment from typical hemolytic-uremic syndrome (after STEC diarrhea) and secondary hemolytic-uremic syndrome
Pathophysiology
- Congenital defect leading to dysregulation of the alternative complement pathway, which leads to increased complement activity
- Mutations can occur anywhere in the complement pathway or, occasionally, in unrelated proteins
- Complement factor H (CFH), C3, factor B, factor I, CD46
- Diacylglycerol kinase ε, plasminogen, factor XII (in the presence of anti-factor H autoantibodies), and thrombomodulin (CD141)
Diagnosis
- Genetic mutation analysis of complement regulatory proteins (CFH, CFI, MCP, C3, CFB, THBD) and anti-CFH antibodies
Management
- Often unable to distinguish from TTP, so plasma exchange should be initiated promptly
- If no improvement on PLEX and there is significant renal involvement, consider:
- Eculizumab to inhibit C5 complement
- Ideally with full meningococcal vaccination beforehand
