title: Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab.
abstract: BACKGROUND
  Atypical hemolytic uremic syndrome (aHUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Neonatal cases are extremely uncommon. Plasma therapy is the first choice therapy in patients with aHUS based on the belief of an underlying complement dysregulation. Alternatively, eculizumab, which targets complement 5, is used to block complement activation.
  
  
  METHODS
  Sudden onset macroscopic hematuria, hypertension, and bruises over the entire body were noted in a 5 day-old newborn. Investigations revealed hemolytic anemia, thrombocytopenia, renal impairment, and a low serum C3, leading to the diagnosis of aHUS. Fresh frozen plasma (FFP) infusions and peritoneal dialysis for acute kidney injury were initiated. This approach yielded full renal and hematological remission. The patient was discharged with FFP infusions, but subsequently developed three life-threatening disease recurrences at 1, 3, and 6 months of age. The last relapse presented with uncontrolled hypertension and impaired renal function while the patient was receiving FFP infusions. After the first dose of eculizumab, his renal and hematological parameters returned to normal and his blood pressure normalized. Genetic screening of the CFH gene revealed a novel homozygous p. Tyr1177Cys mutation.
  
  
  CONCLUSIONS
  Eculizumab can be considered as an alternative to plasma therapy in the treatment of specific patients with aHUS, even in infants.
authors.affiliation: Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.
authors.forename: Nesrin
authors.initials: N
authors.lastname: Besbas
authors.forename: Bora
authors.initials: B
authors.lastname: Gulhan
authors.forename: Diana
authors.initials: D
authors.lastname: Karpman
authors.forename: Rezan
authors.initials: R
authors.lastname: Topaloglu
authors.forename: Ali
authors.initials: A
authors.lastname: Duzova
authors.forename: Emine
authors.initials: E
authors.lastname: Korkmaz
authors.forename: Fatih
authors.initials: F
authors.lastname: Ozaltin
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D065766:Atypical Hemolytic Uremic Syndrome; D003167:Complement Activation / Q000187:drug effects; D003182:Complement C5 / Q000037:antagonists & inhibitors* / Q000276:immunology; D017242:Complement Factor H / Q000172:deficiency; D006463:Hemolytic-Uremic Syndrome / Q000188:drug therapy* / Q000235:genetics; D000081208:Hereditary Complement Deficiency Diseases; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000188:drug therapy; D008297:Male; D015432:Glomerulonephritis, Membranoproliferative
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D003182:Complement C5; D017242:Complement Factor H; C481642:eculizumab