BACKGROUND AND OBJECTIVES: Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease that was first recognized in children but also affects adults. This study assessed the disease presentation and outcome in a nationwide cohort of patients with aHUS according to the age at onset and the underlying complement abnormalities. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A total of 214 patients with aHUS were enrolled between 2000 and 2008 and screened for mutations in the six susceptibility factors for aHUS and for anti-factor H antibodies. RESULTS: Onset of aHUS occurred as frequently during adulthood (58.4%) as during childhood (41.6%). The percentages of patients who developed the disease were 23%, 40%, 70%, and 98% by age 2, 18, 40, and 60 years, respectively. Mortality was higher in children than in adults (6.7% versus 0.8% at 1 year) (P=0.02), but progression to ESRD after the first aHUS episode was more frequent in adults (46% versus 16%; P<0.001). Sixty-one percent of patients had mutations in their complement genes. The renal outcome was not significantly different in adults regardless of genetic background. Only membrane cofactor protein (MCP) and undetermined aHUS were less severe in children than adults. The frequency of relapse after 1 year was 92% in children with MCP-associated HUS and approximately 30% in all other subgroups. CONCLUSION: Mortality rate was higher in children than adults with aHUS, but renal prognosis was worse in adults than children. In children, the prognosis strongly depends on the genetic background.
BACKGROUND AND OBJECTIVES:Atypical hemolytic uremic syndrome (aHUS) is a rare complement-mediated kidney disease that was first recognized in children but also affects adults. This study assessed the disease presentation and outcome in a nationwide cohort of patients with aHUS according to the age at onset and the underlying complement abnormalities. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A total of 214 patients with aHUS were enrolled between 2000 and 2008 and screened for mutations in the six susceptibility factors for aHUS and for anti-factor H antibodies. RESULTS: Onset of aHUS occurred as frequently during adulthood (58.4%) as during childhood (41.6%). The percentages of patients who developed the disease were 23%, 40%, 70%, and 98% by age 2, 18, 40, and 60 years, respectively. Mortality was higher in children than in adults (6.7% versus 0.8% at 1 year) (P=0.02), but progression to ESRD after the first aHUS episode was more frequent in adults (46% versus 16%; P<0.001). Sixty-one percent of patients had mutations in their complement genes. The renal outcome was not significantly different in adults regardless of genetic background. Only membrane cofactor protein (MCP) and undetermined aHUS were less severe in children than adults. The frequency of relapse after 1 year was 92% in children with MCP-associated HUS and approximately 30% in all other subgroups. CONCLUSION:Mortality rate was higher in children than adults with aHUS, but renal prognosis was worse in adults than children. In children, the prognosis strongly depends on the genetic background.
Authors: Jessica Caprioli; Marina Noris; Simona Brioschi; Gaia Pianetti; Federica Castelletti; Paola Bettinaglio; Caterina Mele; Elena Bresin; Linda Cassis; Sara Gamba; Francesca Porrati; Sara Bucchioni; Giuseppe Monteferrante; Celia J Fang; M K Liszewski; David Kavanagh; John P Atkinson; Giuseppe Remuzzi Journal: Blood Date: 2006-04-18 Impact factor: 22.113
Authors: Fadi Fakhouri; Lubka Roumenina; François Provot; Marion Sallée; Sophie Caillard; Lionel Couzi; Marie Essig; David Ribes; Marie-Agnès Dragon-Durey; Frank Bridoux; Eric Rondeau; Veronique Frémeaux-Bacchi Journal: J Am Soc Nephrol Date: 2010-03-04 Impact factor: 10.121
Authors: V Fremeaux-Bacchi; E J Kemp; J A Goodship; M-A Dragon-Durey; L Strain; C Loirat; H-W Deng; T H J Goodship Journal: J Med Genet Date: 2005-03-22 Impact factor: 6.318
Authors: Veronique Frémeaux-Bacchi; Elizabeth C Miller; M Kathryn Liszewski; Lisa Strain; Jacques Blouin; Alison L Brown; Nadeem Moghal; Bernard S Kaplan; Robert A Weiss; Karl Lhotta; Gaurav Kapur; Tej Mattoo; Hubert Nivet; William Wong; Sophie Gie; Bruno Hurault de Ligny; Michel Fischbach; Ritu Gupta; Richard Hauhart; Vincent Meunier; Chantal Loirat; Marie-Agnès Dragon-Durey; Wolf H Fridman; Bert J C Janssen; Timothy H J Goodship; John P Atkinson Journal: Blood Date: 2008-09-16 Impact factor: 22.113
Authors: Lubka T Roumenina; Mathieu Jablonski; Christophe Hue; Jacques Blouin; Jordan D Dimitrov; Marie-Agnes Dragon-Durey; Mathieu Cayla; Wolf H Fridman; Marie-Alice Macher; David Ribes; Luc Moulonguet; Lionel Rostaing; Simon C Satchell; Peter W Mathieson; Catherine Sautes-Fridman; Chantal Loirat; Catherine H Regnier; Lise Halbwachs-Mecarelli; Veronique Fremeaux-Bacchi Journal: Blood Date: 2009-07-07 Impact factor: 22.113
Authors: Matthew C Pickering; Elena Goicoechea de Jorge; Rubén Martinez-Barricarte; Sergio Recalde; Alfredo Garcia-Layana; Kirsten L Rose; Jill Moss; Mark J Walport; H Terence Cook; Santiago Rodriguez de Córdoba; Marina Botto Journal: J Exp Med Date: 2007-05-21 Impact factor: 14.307
Authors: Sjoerd A M E G Timmermans; Myrurgia A Abdul-Hamid; Judith Potjewijd; Ruud O M F I H Theunissen; Jan G M C Damoiseaux; Chris P Reutelingsperger; Pieter van Paassen Journal: J Am Soc Nephrol Date: 2018-06-01 Impact factor: 10.121
Authors: Sally Johnson; Jelena Stojanovic; Gema Ariceta; Martin Bitzan; Nesrin Besbas; Michelle Frieling; Diana Karpman; Daniel Landau; Craig Langman; Christoph Licht; Carmine Pecoraro; Magdalena Riedl; Ekaterini Siomou; Nicole van de Kar; Johan Vande Walle; Chantal Loirat; C Mark Taylor Journal: Pediatr Nephrol Date: 2014-05-11 Impact factor: 3.714