Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations

Pediatr Nephrol. 2008 Aug;23(8):1363-6. doi: 10.1007/s00467-008-0803-4. Epub 2008 Apr 19.

Abstract

Atypical hemolytic uremic syndrome (aHUS) frequently results in end-stage renal failure and can be lethal. Several studies have established an association between quantitative or qualitative abnormalities in complement factor H and aHUS. Although plasma infusion and exchange are often advocated, guidelines have yet to be established. Long-term outcome for patients under treatment is still unknown. We describe a patient who, at 7 months of age, presented with aHUS associated with combined de novo complement factor H mutations (S1191L and V1197A) on the same allele. Laboratory investigations showed normal levels of complements C4, C3 and factor H. Plasma exchanges and large-dose infusion therapy resulted in a resolution of hemolysis and recovery of renal function. Three recurrences were successfully treated by intensification of the plasma infusion treatment to intervals of 2 or 3 days. This patient showed good response to large doses of plasma infusions and her condition remained stable for 30 months with weekly plasma infusions (30 ml/kg). Long-term tolerance and efficacy of such intensive plasma therapy are still unknown. Reported secondary failure of plasma therapy in factor H deficiency warrants the search for alternative therapeutic approaches.

Publication types

  • Case Reports

MeSH terms

  • Complement Factor H / genetics
  • Female
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / therapy*
  • Heterozygote
  • Humans
  • Infant
  • Plasma Exchange / methods*
  • Point Mutation

Substances

  • CFH protein, human
  • Complement Factor H