title: Recurrent haemolytic uraemic syndrome and acquired hypomorphic variant of the third component of complement.
abstract: In a girl with recurrent haemolytic uraemic syndrome (HUS), persistently low serum levels of C3 were found. Analysis of complement phenotype revealed a hypomorphic variant of C3 Fast in the patient (C3fS) and a normal heterozygous pattern in both parents and the brother (C3FS). Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H. The father also had partial factor H deficiency. It is hypothesized that the hypomorphic C3 variant may predispose to recurrent HUS. In the acquired forms the role of uraemia in alteration of C3F should be considered.
authors.affiliation: Department of Paediatrics, University of Antwerp, Belgium.
authors.forename: A M
authors.initials: AM
authors.lastname: Roodhooft
authors.forename: R H
authors.initials: RH
authors.lastname: McLean
authors.forename: E
authors.initials: E
authors.lastname: Elst
authors.forename: K J
authors.initials: KJ
authors.lastname: Van Acker
mesh_terms: D003176:Complement C3 / Q000235:genetics*; D003179:Complement C3b; D015933:Complement C3d; D003181:Complement C4 / Q000235:genetics; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000276:immunology*; D006801:Humans; D007223:Infant; D010641:Phenotype; D012008:Recurrence
chemical_list: D003176:Complement C3; D003181:Complement C4; C046821:complement C3f; D003179:Complement C3b; D015933:Complement C3d