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hemolytic uremic syndrome

Wednesday 15 October 2003

Etiology

- E. coli-associated SHU

- nondiarrheal, nonverocytotoxin SHU (atypical SHU)

- mutations of the CD46 gene in atypical hemolytic uremic syndrome (HUS)

  • heterozygous deletion resulting in the intracellular retention of the mutant protein
  • different heterozygous deletion leading to a premature stop codon and the loss of the C-terminus
  • substitution (S206P) resulting in cell-surface expression but inefficient inactivation of surface-bound C3b
  • membrane cofactor protein (MCP, CD46) is a widely expressed transmembrane complement regulator. As does the soluble regulator factor-H, it inhibits complement activation by inactivating the C3b that is deposited on target membranes.

- bone marrow allograft

See also

- thrombotic thrombocytopenic purpura
- atypical hemolytic uremic syndrome

References

- Siegler R, Oakes R. Hemolytic uremic syndrome; pathogenesis, treatment, and outcome. Curr Opin Pediatr. 2005 Apr;17(2):200-4. PMID: 15800412

- Goodship TH, Liszewski MK, Kemp EJ, Richards A, Atkinson JP. Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. Trends Mol Med. 2004 May 1;10(5):226-231. PMID: 15121049

- Richardson SE, Karmali MA, Becker LE, Smith CR. The histopathology of the hemolytic uremic syndrome associated with verocytotoxin-producing Escherichia coli infections. Hum Pathol. 1988 Sep;19(9):1102-8. PMID: 3047052