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  • Vaziri-Sani, FaribaLund University,Lunds universitet,LU Samverkan,Sektionen Forskning, samverkan och innovation,Universitetsförvaltningen,Universitetets ledning och förvaltning,Systemvirologi,Forskargrupper vid Lunds universitet,Cooperation office,Research, Collaboration and Innovation,Central Administration,University Management and Central Administration,Systems Virology,Lund University Research Groups (author)

Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome

  • Article/chapterEnglish2006

Publisher, publication year, extent ...

  • Nature Publishing Group,2006
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:hkr-12660
  • urn:nbn:se:hkr:diva-12660urn
  • https://doi.org/10.1038/sj.ki.5000155DOI
  • https://lup.lub.lu.se/record/154739URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:1945296URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • gratis
  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Holmberg, L (author)
  • Sjöholm, A G (author)
  • Kristoffersson, A C (author)
  • Manea, M (author)
  • Fremeaux-Bacchi, V (author)
  • Fehrman-Ekholm, I (author)
  • Raafat, R (author)
  • Karpman, D (author)
  • Frémeaux-Bacchi, V (author)
  • Sjöholm, AndersLund University,Lunds universitet,Avdelningen för mikrobiologi, immunologi och glykobiologi - MIG,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Microbiology, Immunology and Glycobiology - MIG,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)mmb-asj (author)
  • Manea Hedström, MinolaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)pedi-mm0 (author)
  • Kristoffersson, Ann-CharlotteLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)pedi-ack (author)
  • Karpman, DianaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk nefrologi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Pediatric Nephrology,Lund University Research Groups(Swepub:lu)pedi-dka (author)
  • Holmberg, LarsLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)pedi-lho (author)
  • Sjoholm, AG (author)
  • Kristoffersson, AC (author)
  • Vaziri-Sani, F (author)
  • LU SamverkanSektionen Forskning, samverkan och innovation (creator_code:org_t)

Related titles

  • In:Kidney International: Nature Publishing Group69:6, s. 981-9880085-25381523-1755

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