Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

AL Sellier-Leclerc, V Fremeaux-Bacchi… - Journal of the …, 2007 - journals.lww.com
Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have
been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study …

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

LM Geerdink, D Westra, JAE van Wijk… - Pediatric …, 2012 - Springer
Background Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB),
thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies …

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome

D Kavanagh, EJ Kemp, E Mayland… - Journal of the …, 2005 - journals.lww.com
Mutations in the plasma complement regulator factor H (CFH) and the transmembrane
complement regulator membrane co-factor protein (MCP) have been shown to predispose to …

Complement and the atypical hemolytic uremic syndrome in children

C Loirat, M Noris, V Fremeaux-Bacchi - Pediatric nephrology, 2008 - Springer
Over the past decade, atypical hemolytic uremic syndrome (aHUS) has been demonstrated
to be a disorder of the regulation of the complement alternative pathway. Among …

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

E Bresin, E Rurali, J Caprioli… - Journal of the …, 2013 - journals.lww.com
Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …

[HTML][HTML] Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome

F Bienaime, MA Dragon-Durey, CH Regnier… - Kidney international, 2010 - Elsevier
Genetic studies have shown that mutations of complement inhibitors such as membrane
cofactor protein, Factors H, I, or B and C3 predispose patients to atypical hemolytic uremic …

Genetics and complement in atypical HUS

D Kavanagh, T Goodship - Pediatric nephrology, 2010 - Springer
Central to the pathogenesis of atypical hemolytic uremic syndrome (aHUS) is over-activation
of the alternative pathway of complement. Following the initial discovery of mutations in the …

Liver-kidney transplantation to cure atypical hemolytic uremic syndrome

JM Saland, P Ruggenenti, G Remuzzi… - Journal of the …, 2009 - journals.lww.com
Atypical hemolytic uremic syndrome is often associated with mutations in genes encoding
complement regulatory proteins and secondary disorders of complement regulation …

Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults

V Fremeaux-Bacchi, F Fakhouri, A Garnier… - Clinical Journal of the …, 2013 - journals.lww.com
Results Onset of aHUS occurred as frequently during adulthood (58.4%) as during
childhood (41.6%). The percentages of patients who developed the disease were 23 …

[HTML][HTML] Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome

M Le Quintrec, J Zuber, B Moulin, N Kamar… - American Journal of …, 2013 - Elsevier
Atypical hemolytic and uremic syndrome (aHUS) is a severe disease strongly associated
with genetic abnormalities in the complement alternative pathway. In renal …