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atypical hemolytic uremic syndrome

Friday 13 January 2012

Atypical hemolytic uremic syndrome (aHUS) is a disease characterized by excessive complement activation in the microvasculature.

In both the familial and sporadic forms, inherited and acquired abnormalities affecting components of the alternative complement pathway are found in ∼ 60% of patients.

These include mutations in the genes encoding both complement regulators (factor H, factor I, membrane cofactor protein, and thrombomodulin) and activators (factors B and C3) and autoantibodies against factor H.

Multiple hits are necessary for the disease to manifest, including a trigger, mutations, and at-risk haplotypes in complement genes.

The prognosis for aHUS is poor, with most patients developing end-stage renal failure.

Renal transplantation in most patients also has a poor prognosis, with frequent loss of the allograft to recurrent disease.

However, improving results with combined liver-kidney transplantation and the advent of complement inhibitors such as eculizumab offer hope that the prognosis for aHUS will improve in future years.

Open references

- Atypical hemolytic uremic syndrome, genetic basis, and clinical manifestations. Kavanagh D, Goodship TH. Hematology Am Soc Hematol Educ Program. 2011;2011:15-20. PMID: 22160007 [Free]