Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic …
MA Dragon-Durey, V Fremeaux-Bacchi… - Journal of the …, 2004 - journals.lww.com
Factor H (FH) is the major regulatory protein of the complement alternative pathway, with a
structure consisting of a tandem array of 20 homologous units, called short consensus
repeats (SCR). Reported are 16 FH-deficient patients. Among six patients with homozygous
deficiency, four presented with membranoproliferative glomerulonephritis, and two with
atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH
deficiency and developed atypical HUS. HUS onset occurred from birth to midadulthood …
structure consisting of a tandem array of 20 homologous units, called short consensus
repeats (SCR). Reported are 16 FH-deficient patients. Among six patients with homozygous
deficiency, four presented with membranoproliferative glomerulonephritis, and two with
atypical hemolytic uremic syndrome (HUS). The ten other patients had heterozygous FH
deficiency and developed atypical HUS. HUS onset occurred from birth to midadulthood …