title: Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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: Service d'Immunologie Biologique, Hôpital Europeén Georges Pompidou, 20-40 rue Leblanc, Paris cedex 15, France. veronique.fremeaux-bacchi@egp.aphp.fr
authors: Véronique
authors: V
authors: Fremeaux-Bacchi
authors: Fadi
authors: F
authors: Fakhouri
authors: Arnaud
authors: A
authors: Garnier
authors: Frank
authors: F
authors: Bienaimé
authors: Marie-Agnès
authors: MA
authors: Dragon-Durey
authors: Stéphanie
authors: S
authors: Ngo
authors: Bruno
authors: B
authors: Moulin
authors: Aude
authors: A
authors: Servais
authors: François
authors: F
authors: Provot
authors: Lionel
authors: L
authors: Rostaing
authors: Stéphane
authors: S
authors: Burtey
authors: Patrick
authors: P
authors: Niaudet
authors: Georges
authors: G
authors: Deschênes
authors: Yvon
authors: Y
authors: Lebranchu
authors: Julien
authors: J
authors: Zuber
authors: Chantal
authors: C
authors: Loirat
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D065766:Atypical Hemolytic Uremic Syndrome; D002648:Child; D002675:Child, Preschool; D003165:Complement System Proteins / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing / Q000706:statistics & numerical data; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics / Q000401:mortality / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D017063:Outcome Assessment, Health Care; D011379:Prognosis; D055815:Young Adult
chemical_list: D003165:Complement System Proteins