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Human complement factor H deficiency associated with hemolytic uremic syndrome.

N Rougier, M D Kazatchkine, J P Rougier, V Fremeaux-Bacchi, J Blouin, G Deschenes, B Soto, V Baudouin, B Pautard, W Proesmans, E Weiss and L Weiss
JASN December 1998, 9 (12) 2318-2326;
N Rougier
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M D Kazatchkine
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J P Rougier
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V Fremeaux-Bacchi
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J Blouin
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G Deschenes
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B Soto
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V Baudouin
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B Pautard
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W Proesmans
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E Weiss
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L Weiss
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Abstract

This study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS.

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Journal of the American Society of Nephrology
Vol. 9, Issue 12
1 Dec 1998
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Human complement factor H deficiency associated with hemolytic uremic syndrome.
N Rougier, M D Kazatchkine, J P Rougier, V Fremeaux-Bacchi, J Blouin, G Deschenes, B Soto, V Baudouin, B Pautard, W Proesmans, E Weiss, L Weiss
JASN Dec 1998, 9 (12) 2318-2326;

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Human complement factor H deficiency associated with hemolytic uremic syndrome.
N Rougier, M D Kazatchkine, J P Rougier, V Fremeaux-Bacchi, J Blouin, G Deschenes, B Soto, V Baudouin, B Pautard, W Proesmans, E Weiss, L Weiss
JASN Dec 1998, 9 (12) 2318-2326;
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Cited By...

  • Endothelial Dysfunction: The Secret Agent Driving Kidney Disease
  • Successful Split Liver-Kidney Transplant for Factor H Associated Hemolytic Uremic Syndrome
  • Complement factor h: spatial and temporal expression and localization in the eye.
  • Outcome of Renal Transplantation in Patients with Non-Shiga Toxin-Associated Hemolytic Uremic Syndrome: Prognostic Significance of Genetic Background
  • The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts
  • Hemolytic Uremic Syndrome
  • Anti-Factor H Autoantibodies Associated with Atypical Hemolytic Uremic Syndrome
  • Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome
  • Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries
  • Cutting Edge: Localization of the Host Recognition Functions of Complement Factor H at the Carboxyl-Terminal: Implications for Hemolytic Uremic Syndrome
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