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Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome
Lunds universitet.ORCID iD: 0000-0002-9953-2829
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2006 (English)In: Kidney International, ISSN 0085-2538, E-ISSN 1523-1755, Vol. 69, no 6, 981-988 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2006. Vol. 69, no 6, 981-988 p.
National Category
Cell and Molecular Biology Immunology in the medical area
Identifiers
URN: urn:nbn:se:hkr:diva-12660DOI: 10.1038/sj.ki.5000155ISI: 000236340100011OAI: oai:DiVA.org:hkr-12660DiVA: diva2:739751
Available from: 2014-08-21 Created: 2014-08-21 Last updated: 2017-01-12Bibliographically approved

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CiteExportLink to record
Permanent link

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Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
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  • asciidoc
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