scholarly journals Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition

2001 ◽  
Vol 68 (2) ◽  
pp. 485-490 ◽  
Author(s):  
Anna Richards ◽  
Mark R. Buddles ◽  
Rosemary L. Donne ◽  
Bernard S. Kaplan ◽  
Edwin Kirk ◽  
...  
2002 ◽  
Vol 103 (s47) ◽  
pp. 28P-28P
Author(s):  
A Richards ◽  
MR Buddies ◽  
RL Donne ◽  
JA Goodship ◽  
THJ Goodship

2014 ◽  
Vol 18 (5) ◽  
pp. E134-E139 ◽  
Author(s):  
Priyanka Khandelwal ◽  
Aditi Sinha ◽  
Pankaj Hari ◽  
Virinder K. Bansal ◽  
Amit K. Dinda ◽  
...  

Nephron ◽  
2017 ◽  
Vol 138 (4) ◽  
pp. 324-327 ◽  
Author(s):  
Hironori Nakamura ◽  
Mariko Anayama ◽  
Mutsuki Makino ◽  
Yasushi Makino ◽  
Katsuhiko Tamura ◽  
...  

2011 ◽  
Vol 49 (1-2) ◽  
pp. 48-55 ◽  
Author(s):  
Saki Mukai ◽  
Yoshihiko Hidaka ◽  
Masako Hirota-Kawadobora ◽  
Kazuyuki Matsuda ◽  
Noriko Fujihara ◽  
...  

2021 ◽  
Vol 8 ◽  
Author(s):  
Lara Kollbrunner ◽  
Patricia Hirt-Minkowski ◽  
Javier Sanz ◽  
Elena Bresin ◽  
Thomas J. Neuhaus ◽  
...  

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.


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