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 ATYPICAL HEMOLYTIC-UREMIC SYNDROME IN GENERAL AND IN PREGNANCY

2018 ◽  
Vol 5 (3) ◽  
pp. 132-139
Author(s):  
Aleksandr V. Novikov
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Renal Damage ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
New Drugs ◽  
Factor I ◽  
The Past ◽  
Alternative Complement ◽  
Uremic Syndrome ◽  
The Complement System

Atypical hemolytic-uremic syndrome (aHUS) is an ultra-rare (orphan) disease, a form of thrombotic microangiopathy, which arises from a disturbance of the activation of an alternative complement pathway. Pregnancy is a frequent trigger for the onset of obstetric aHUS. Against the background of the disease in pregnant women, there is a high risk of developing pre-eclampsia, acute renal damage and consequently maternal mortality. In the world over the past 5 years, the number of confirmed cases of aHUS has increased. However, this is due not so much to the increase in the occurence of the disease as to the improvement in the methods of its diagnosis. The genetic nature of the aHUS dictates the need to create modern sensitive tests for the study of the complement system: measurement of the plasma concentration of factor H and factor I, C3, C4, genetic screening of regulatory genes, and others. It is also necessary to develop new drugs that, along with Eculizumabum (Soliris®, Alexion Pharmaceuticals, Cheshire, CT, USA) would be used in the therapy of aHUS.

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 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 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

Complement factor H antibody-associated atypical hemolytic uremic syndrome and eculizumab treatment

2017 ◽  
Author(s):  
Zeynep Yürük Yıldırım ◽  
Alev Yılmaz ◽  
Sevinç Emre ◽  
Ilmay Bilge ◽  
Bağdagül Yavaş Aksu ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
Uremic Syndrome
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