scholarly journals Anti-complement factor H (CFH) antibodies and a novel CFH gene mutation in an atypical hemolytic uremic syndrome patient with complement activation of the classical pathway

2021 ◽  
pp. 1-4
Author(s):  
Sonoko Minato ◽  
Hiroyuki Iijima ◽  
Hiro Nakao ◽  
Kentaro Nishi ◽  
Yoshihiko Hidaka ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Mutation ◽  
Complement Activation ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Classical Pathway ◽  
Complement Factor ◽  
Syndrome Patient ◽  
Hemolytic Uremic Syndrome Patient ◽  
Uremic Syndrome

scholarly journals Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome

2000 ◽  
Vol 66 (5) ◽  
pp. 1721-1722 ◽  
Author(s):  
Mark R.H. Buddles ◽  
Rosemary L. Donne ◽  
Anna Richards ◽  
Judith Goodship ◽  
Timothy H.J. Goodship
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Mutation ◽  
Autosomal Recessive ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
H Gene ◽  
Uremic Syndrome

scholarly journals Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome

1999 ◽  
Vol 65 (6) ◽  
pp. 1538-1546 ◽  
Author(s):  
Lihua Ying ◽  
Yitzhak Katz ◽  
Menachem Schlesinger ◽  
Rivka Carmi ◽  
Hanna Shalev ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Mutation ◽  
Autosomal Recessive ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
H Gene ◽  
Uremic Syndrome

Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab

Nephron ◽  
2017 ◽  
Vol 138 (4) ◽  
pp. 324-327 ◽  
Author(s):  
Hironori Nakamura ◽  
Mariko Anayama ◽  
Mutsuki Makino ◽  
Yasushi Makino ◽  
Katsuhiko Tamura ◽  
...  
Keyword(s):  
Case Report ◽  
Hemolytic Uremic Syndrome ◽  
Iga Nephropathy ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
Uremic Syndrome ◽  
Factor H Mutation

scholarly journals Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Lara Kollbrunner ◽  
Patricia Hirt-Minkowski ◽  
Javier Sanz ◽  
Elena Bresin ◽  
Thomas J. Neuhaus ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor ◽  
Inherited Disease ◽  
Lipoprotein Glomerulopathy ◽  
Gene Encoding ◽  
Alternative Complement ◽  
Uremic Syndrome ◽  
The Complement System

Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1*B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.

scholarly journals De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

2006 ◽  
Vol 27 (3) ◽  
pp. 292-293 ◽  
Author(s):  
Stefan Heinen ◽  
Pilar Sanchez-Corral ◽  
Michael S Jackson ◽  
Lisa Strain ◽  
Judith A. Goodship ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Conversion ◽  
Gene Cluster ◽  
De Novo ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
De Novo Gene ◽  
Uremic Syndrome
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