Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations.
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.
Lapeyraque
Anne-Laure
AL
Department of Pediatrics, Division of Nephrology, CHU Sainte-Justine, Montreal, QC, Canada. anne-laure.lapeyraque.hsj@ssss.gouv.qc.ca
Wagner
Eric
E
Phan
Véronique
V
Clermont
Marie-José
MJ
Merouani
Aïcha
A
Frémeaux-Bacchi
Véronique
V
Goodship
Timothy H J
TH
Robitaille
Pierre
P
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
C493495:CFH protein, human; D017242:Complement Factor H