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Lookup NU author(s): Dr Veronique Fremaux-Bacchi,
Professor Tim Goodship
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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. © IPNA 2008.
Author(s): Lapeyraque A-L, Wagner E, Phan V, Clermont M-J, Merouani A, Fremeaux-Bacchi V, Goodship THJ, Robitaille P
Publication type: Article
Publication status: Published
Journal: Pediatric Nephrology
ISSN (print): 0931-041X
ISSN (electronic): 1432-198X
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