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Hemolytic-uremic syndrome other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [3] Parth Vikram Singh, MBBS[4]

Overview

Other diagnostic studies associated with HUS include complement protein levels and complement gene mutational analysis.

Other Diagnostic Studies

Other diagnostic studies associated with HUS include complement protein levels and complement gene mutational analysis.[1]

  • Complement factor C3 mutation
  • Complement factor C4 mutation
  • Complement factor B mutation
  • Complement factor H mutation
  • Complement factor H-related (CFHR) genes 1-3 mutations
  • Complement factor I mutation
  • Membrane cofactor protein (MCP) mutation
  • Thrombomodulin (THBD) mutation
  • Anti-Complement factor H antibody

In most cases of STEC-associated HUS, routine screening for complement regulatory gene mutations is not warranted on the basis of current data.[2]

References

  1. Loirat C, Frémeaux-Bacchi V (2011). “Atypical hemolytic uremic syndrome”. Orphanet J Rare Dis. 6: 60. doi:10.1186/1750-1172-6-60. PMC 3198674. PMID 21902819.
  2. Freedman SB, van de Kar NC, Tarr PI (October 2023). “Shiga Toxin-Producing Escherichia coli and the Hemolytic-Uremic Syndrome”. N Engl J Med. 389 (15): 1402–1414. doi:10.1056/NEJMra2108739. PMID 37819955 Check |pmid= value (help).

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