title: Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations.
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.
authors.affiliation: Department of Pediatrics, Division of Nephrology, CHU Sainte-Justine, Montreal, QC, Canada. anne-laure.lapeyraque.hsj@ssss.gouv.qc.ca
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Lapeyraque
authors.forename: Eric
authors.initials: E
authors.lastname: Wagner
authors.forename: Véronique
authors.initials: V
authors.lastname: Phan
authors.forename: Marie-José
authors.initials: MJ
authors.lastname: Clermont
authors.forename: Aïcha
authors.initials: A
authors.lastname: Merouani
authors.forename: Véronique
authors.initials: V
authors.lastname: Frémeaux-Bacchi
authors.forename: Timothy H J
authors.initials: TH
authors.lastname: Goodship
authors.forename: Pierre
authors.initials: P
authors.lastname: Robitaille
mesh_terms: D017242:Complement Factor H / Q000235:genetics; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000628:therapy*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D010951:Plasma Exchange / Q000379:methods*; D017354:Point Mutation
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H