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Differential Impact of Complement Mutations on Clinical Characteristics in Atypical Hemolytic Uremic Syndrome

Anne-Laure Sellier-Leclerc^*, Veronique Fremeaux-Bacchi, Marie-Agnès Dragon-Durey, Marie-Alice Macher^*, Patrick Niaudet, Geneviève Guest, Bernard Boudailliez, Franois Bouissou^||, Georges Deschenes^¶, Sophie Gie^**, Michel Tsimaratos, Michel Fischbach, Denis Morin, Hubert Nivet^||||, Corinne Alberti^¶¶, Chantal Loirat^* for the French Society of Pediatric Nephrology

^* Assistance Publique–Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Hôpital Robert Debré, Université Paris VII, Faculté de Médecine Denis Diderot, Paris; Assistance Publique–Hôpitaux de Paris, Laboratoire d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris; Assistance Publique–Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris; Département de Pédiatrie, Hôpital Nord, Amiens; ^|| Service de Néphrologie Pédiatrique, Hôpital des Enfants, Toulouse; ^¶ Assistance Publique–Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Hôpital Trousseau, Paris; ^** Service de Néphrologie, Hôpital de Pontchaillou, Rennes; Service de Néphrologie, Hôpital de la Timone, Marseille; Service de Pédiatrie, Hôpital Hautepierre, Strasbourg; Service de Pédiatrie 1, Hôpital Arnault de Villeneuve, Montpellier; ^|||| Service de Néphrologie, Hôpital de Clocheville, Tours; and ^¶¶ Assistance Publique–Hôpitaux de Paris, Hôpital Robert Debré, Unité d'Epidémiologie Clinique, Paris, France

Correspondence: Dr. Chantal Loirat, Service de Néphrologie, Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, 48 Boulevard Sérurier, 75 019 Paris, France. Phone: +33-1-4003-2146; Fax: +33-1-4003-2468; chantal.loirat{at}rdb.aphp.fr

Received for publication August 1, 2006. Accepted for publication April 12, 2007.

Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study analyzed the impact of complement mutations on the outcome of 46 children with aHUS. A total of 52% of patients had mutations in one or two of known susceptibility factors (22, 13, and 15% of patients with CFH, IF, or MCP mutations, respectively; 2% with CFH+IF mutations). Age <3 mo at onset seems to be characteristic of CFH and IF mutation–associated aHUS. The most severe prognosis was in the CFH mutation group, 60% of whom reached ESRD or died within <1 yr. Only 30% of CFH mutations were localized in SCR20. MCP mutation–associated HUS has a relapsing course, but none of the children reached ESRD at 1 yr. Half of patients with IF mutation had a rapid evolution to ESRD, and half recovered. Plasmatherapy seemed to have a beneficial effect in one third of patients from all groups except for the MCP mutation group. Only eight (33%) of 24 kidney transplantations that were performed in 15 patients were successful. Graft failures were due to early graft thrombosis (50%) or HUS recurrence. In conclusion, outcome of HUS in patients with CFH mutation is catastrophic, and posttransplantation outcome is poor in all groups except for the MCP mutation group. New therapies are urgently needed, and further research should elucidate the unexplained HUS group.

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