Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree
J Esparza-Gordillo, EG de Jorge, CA Garrido… - Molecular …, 2006 - Elsevier
Mutations in the complement regulators factor H, membrane cofactor protein (MCP), and
factor I are associated with atypical hemolytic uremic syndrome (aHUS, MIM 235400) …
factor I are associated with atypical hemolytic uremic syndrome (aHUS, MIM 235400) …
Genetics of hemolytic uremic syndromes
M Malina, LT Roumenina, T Seeman, M Le Quintrec… - La Presse Médicale, 2012 - Elsevier
Hemolytic uremic syndrome (HUS) is a very rare disease (two cases per year per 1 million
population) but represents the most common cause of acute renal failure in young children …
population) but represents the most common cause of acute renal failure in young children …
[HTML][HTML] An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome
S Gastoldi, S Aiello, M Galbusera, M Breno… - Frontiers in …, 2023 - frontiersin.org
Introduction Comprehensive genetic analysis is essential to clinical care of patients with
atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment …
atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment …
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster …
The efficiency of the complement system as an innate immune defense mechanism depends
on a fine control that restricts its action to pathogens and prevents non-specific damage to …
on a fine control that restricts its action to pathogens and prevents non-specific damage to …
[HTML][HTML] Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement
regulation. Disease-associated mutations have been described in the genes encoding the …
regulation. Disease-associated mutations have been described in the genes encoding the …
Genetics of atypical hemolytic uremic syndrome (aHUS)
SR de Cordoba, MS Hidalgo, S Pinto… - … in thrombosis and …, 2014 - thieme-connect.com
Hemolytic uremic syndrome (HUS) is a rare, life-threatening disease characterized by
thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical …
thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical …
Where next with atypical hemolytic uremic syndrome?
TS Jokiranta, PF Zipfel, V Fremeaux-Bacchi… - Molecular …, 2007 - Elsevier
Hemolytic uremic syndrome (HUS) is a systemic disease characterized by damage to
endothelial cells, erythrocytes and kidney glomeruli. A “typical” form of HUS follows …
endothelial cells, erythrocytes and kidney glomeruli. A “typical” form of HUS follows …
[HTML][HTML] The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome
R Martínez-Barricarte, M Heurich, A López-Perrote… - Molecular …, 2015 - Elsevier
Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation
caused by mutations and polymorphisms in complement activators and regulators. However …
caused by mutations and polymorphisms in complement activators and regulators. However …
Atypical hemolytic uremic syndrome: update on the complement system and what is new
P Hirt-Minkowski, M Dickenmann… - Nephron Clinical Practice, 2010 - karger.com
Atypical hemolytic uremic syndrome (aHUS) is a rare disease of microangiopathic hemolytic
anemia, thrombocytopenia, and predominant renal impairment. It is characterized by the …
anemia, thrombocytopenia, and predominant renal impairment. It is characterized by the …
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 …
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …