Document Detail


Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.
MedLine Citation:
PMID:  19531976     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although genetic defect of complement factor H (CFH) is a common cause of atypical hemolytic uremic syndrome (aHUS), development of autoantibodies to CFH (CFH-Ab) is also known to be an acquired cause of aHUS. Recently, a correlation between the development of CFH-Ab and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, was identified. In this study, plasma complement profiles were measured and genetic analysis of the CFH, CFI, MCP, CFHR1, and CFHR3 genes were performed in three female patients diagnosed with aHUS with positive CFH-Ab. Acute stage plasmas of all the three patients revealed low C3, low or low-normal CFH antigenic levels, and high titers of CFH-Ab. All the patients also showed complete plasma CFHR1 deficiency and homozygous genomic deletion of CFHR1/CFHR3, but none had CFH, CFI, or MCP mutations. All the patients were treated with plasmapheresis, and two patients required additional immunosuppressive therapy. These patients had a novel subgroup of aHUS characterized by a combination of genetic (a homozygous deletion of CFHR1/CFHR3) and acquired (development of CFH-Ab) factors. Patients with this disease may need intensive immunosuppressive therapy in addition to plasmapheresis. Screening for CFH-Ab and the CFHR1/CFHR3 deficiency should be included in the diagnostic tests for patients with aHUS.
Authors:
Beom Hee Lee; Soo Heon Kwak; Jae Il Shin; So Hee Lee; Hyun Jin Choi; Hee Gyung Kang; Il Soo Ha; Jae Seung Lee; Marie-Agn?s Dragon-Durey; Yong Choi; Hae Il Cheong
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  66     ISSN:  1530-0447     ISO Abbreviation:  Pediatr. Res.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-20     Completed Date:  2009-10-27     Revised Date:  2010-05-20    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  336-40     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Kidney Research Institute, Seoul National University College of Medicine, Seoul 110-744, Korea.
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MeSH Terms
Descriptor/Qualifier:
Autoantibodies / immunology*
Blood Proteins / deficiency*,  genetics
Child
Complement C3b Inactivator Proteins / deficiency*,  genetics
Complement Factor H / immunology*
Complement System Proteins / genetics,  metabolism
Female
Genetic Predisposition to Disease
Hemolytic-Uremic Syndrome* / blood,  immunology
Humans
Chemical
Reg. No./Substance:
0/Autoantibodies; 0/Blood Proteins; 0/CFHR1 protein, human; 0/CFHR3 protein, human; 0/Complement C3b Inactivator Proteins; 80295-65-4/Complement Factor H; 9007-36-7/Complement System Proteins

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