Does complement factor B have a role in the pathogenesis of atypical HUS?
Atypical haemolytic uraemic syndrome (aHUS) is a disorder of complement dysregulation. Because complement factor B (fB) carries the catalytic site of the alternative pathway convertase we examined it as both a potential candidate gene and modifier in the pathogenesis of aHUS. No factor B gene (BF) mutations were found in 20 patients with aHUS. There was no statistical difference between controls and aHUS patients in either BF allele or haplotype frequency. In conclusion, in this small series of aHUS patients we found no evidence that fB has a major role in the pathogenesis of aHUS.
Kavanagh
David
D
Washington University School of Medicine, Campus Box 8045, St. Louis, MO 63110, USA. david.kavanagh@ncl.ac.uk
Kemp
Elizabeth J
EJ
Richards
Anna
A
Burgess
Rachel M
RM
Mayland
Elizabeth
E
Goodship
Judith A
JA
Goodship
Timothy H J
TH
D016022:Case-Control Studies; D011415:Complement Factor B / Q000235:genetics*; D005787:Gene Frequency; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation
D011415:Complement Factor B