Factor H genotype-phenotype correlations: Lessons from aHUS, MPGN II, and AMD

Abstract

Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II). The report of Licht et al. of a mutation in the complement- regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition.