title: Preservation of renal function in atypical hemolytic uremic syndrome by eculizumab: a case report.
abstract: Genetic mutations in complement components are associated with the development of atypical hemolytic uremic syndrome (aHUS), a rare disease with high morbidity rate triggered by infections or unidentified factors. The uncontrolled activation of the alternative pathway of complement results in systemic endothelial damage leading to progressive development of renal failure. A previously healthy 8-month-old boy was referred to our hospital because of onset of fever, vomiting, and a single episode of nonbloody diarrhea. Acute kidney injury with preserved diuresis, hemolytic anemia, and thrombocytopenia were detected, and common protocols for management of HUS were followed without considerable improvement. The persistent low levels of complement component C3 led us to hypothesize the occurrence of aHUS. In fact, the child carried a specific mutation in complement factor H (Cfh; nonsense mutation in 3514G>T, serum levels of Cfh 138 mg/L, normal range 350-750). Given the lack of response to therapy and the occurrence of kidney failure requiring dialysis, we used eculizumab as rescue therapy, a monoclonal humanized antibody against the complement component C5. One week from the first administration, we observed a significant improvement of all clinical and laboratory parameters with complete recovery from hemodialysis, even in the presence of systemic infections. Our case report shows that complement inhibiting treatment allows the preservation of renal function and avoids disease relapses during systemic infections.
authors.affiliation: Pediatric Nephrology and Dialysis Unit, Ospedale Pediatrico Giovanni XXIII, Bari, Italy. mariogiordanobari@fastwebnet.it
authors.forename: Mario
authors.initials: M
authors.lastname: Giordano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castellano
authors.forename: Giovanni
authors.initials: G
authors.lastname: Messina
authors.forename: Claretta
authors.initials: C
authors.lastname: Divella
authors.forename: Rosa
authors.initials: R
authors.lastname: Bellantuono
authors.forename: Flora
authors.initials: F
authors.lastname: Puteo
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Colella
authors.forename: Tommaso
authors.initials: T
authors.lastname: Depalo
authors.forename: Loreto
authors.initials: L
authors.lastname: Gesualdo
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D065766:Atypical Hemolytic Uremic Syndrome; D006463:Hemolytic-Uremic Syndrome / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000502:physiology*; D008297:Male
chemical_list: D061067:Antibodies, Monoclonal, Humanized; C481642:eculizumab