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Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment

Lookup NU author(s): Dr Lisa Turnbull, Professor Tim Goodship


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Hemolytic uremic syndrome not associated with diarrhea (diarrhea negative, atypical) is less common than the diarrhea-positive typical form, but frequently results In end-stage renal failure. Although there are anecdotal cases of successful treatment with fresh frozen plasma alone, the value of this treatment compared with plasma exchange (PE) Is difficult to assess. We describe monozygotic female twins who presented at 5 years of age with factor H-related (c.3572 > T; Ser1191Leu) atypical hemolytic uremic syndrome within months of each other. In the first twin to present, 10 sessions of PE with fresh frozen plasma replacement (40 mL/kg) resulted In resolution of hemolysis and Improvement In plasma creatinine level (1.9 to 1.5 mg/dL [166 to 137 mu mol/L]). Subsequently, 17 Infusions of fresh frozen plasma were administered during a 4-month period for recurrent thrombocytopenia. However, within 4 months, plasma creatinine level increased to 5.1 mg/dL (450 mu mol/L), necessitating peritoneal dialysis. When the second twin presented with the same disease, an extended PE regimen was Instituted. After 10 daily sessions, PE was continued once every 2 weeks. Two recurrences were treated successfully with daily PE for 7 days. After 44 months of follow-up, kidney function is normal (plasma creatinine, 0.6 mg/dL [53 mu mol/L]; creatinine clearance, 119 mL/min/1.73 m(2) [1.98 mL/s/1.73 m(2)]) on maintenance PE therapy. In conclusion, the response to treatment of these monozygotic twins suggests that long-term PE may have benefits over plasma Infusion alone.

Publication metadata

Author(s): Davin JC, Olie KH, Verlaak R, Horuz F, Florquin S, Weening JJ, Groothoff JW, Strain L, Goodship THJ

Publication type: Article

Publication status: Published

Journal: American Journal of Kidney Diseases

Year: 2006

Volume: 47

Issue: 2

Pages: e27-e30

ISSN (print): 0272-6386

ISSN (electronic): 1523-6838

Publisher: WB Saunders Co.


DOI: 10.1053/j.ajkd.2005.11.007


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