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- Title
Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.
- Authors
Vaziri-Sani, F.; Holmberg, L.; Sjöholm, A. G.; Kristoffersson, A.-C.; Manea, M.; Frémeaux-Bacchi, V.; Fehrman-Ekholm, I.; Raafat, R.; Karpman, D.
- Abstract
We investigated the phenotypic expression of factor H mutations in two patients with atypical hemolytic uremic syndrome (HUS). Factor H in serum was assayed by rocket immunoelectrophoresis, immunoblotting, and double immunodiffusion and in tissue by immunohistochemistry. Functional activity was analyzed by hemolysis of sheep erythrocytes and binding to endothelial cells. A homozygous mutation in complement control protein (CCP) domain 10 of factor H was identified in an adult man who first developed membranoproliferative glomerulonephritis and later HUS. C3 levels were very low. The patient had undetectable factor H levels in serum and a weak factor H 150 kDa band. Double immunodiffusion showed partial antigenic identity with factor H in normal serum owing to the presence of factor H-like protein 1. Strong specific labeling for factor H was detected in glomerular endothelium, mesangium and in glomerular and tubular epithelium as well as in bone marrow cells. A heterozygous mutation in CCP 20 of factor H was found in a girl with HUS. C3 levels were moderately decreased at onset. Factor H levels were normal and a normal 150 kDa band was present. Double immunodiffusion showed antigenic identity with normal factor H. Factor H labeling was minimal in the renal cortex. Factor H dysfunction was demonstrated by increased sheep erythrocyte hemolysis and decreased binding to endothelial cells. In summary, two different factor H mutations associated with HUS were examined: in one, factor H accumulated in cells, and in the other, membrane binding was reduced.Kidney International (2006) 69, 981–988. doi:10.1038/sj.ki.5000155; published online 25 January 2006
- Subjects
BONE marrow; SERUM; IMMUNOELECTROPHORESIS; IMMUNOBLOTTING; IMMUNODIFFUSION; ERYTHROCYTES; GLOMERULONEPHRITIS
- Publication
Kidney International, 2006, Vol 69, Issue 6, p981
- ISSN
0085-2538
- Publication type
Article
- DOI
10.1038/sj.ki.5000155