Document Detail

Hemolytic uremic syndrome due to homozygous factor H deficiency.
MedLine Citation:
PMID:  19568827     Owner:  NLM     Status:  MEDLINE    
The majority of complement factor H mutations associated with atypical hemolytic uremic syndrome (HUS) are heterozygous. Homozygous mutations causing atypical hemolytic uremic syndrome are rare. We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor H in the patient, with his parents being carriers. The patient showed progression to end-stage renal disease and is presently on chronic ambulatory peritoneal dialysis.
Sidharth Kumar Sethi; Dragon-Durey Marie-Agnes; Neelam Thaker; Pankaj Hari; Arvind Bagga
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-07-01
Journal Detail:
Title:  Clinical and experimental nephrology     Volume:  13     ISSN:  1437-7799     ISO Abbreviation:  Clin. Exp. Nephrol.     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-10-01     Completed Date:  2009-12-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9709923     Medline TA:  Clin Exp Nephrol     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  526-30     Citation Subset:  IM    
Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
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MeSH Terms
Base Sequence
Complement C3 / genetics,  metabolism
Complement C4 / genetics,  metabolism
Complement Factor H* / deficiency,  genetics
DNA Mutational Analysis
Genetic Predisposition to Disease
Hemolytic-Uremic Syndrome* / etiology,  genetics
Kidney / pathology
Molecular Sequence Data
Reg. No./Substance:
0/Complement C3; 0/Complement C4; 80295-65-4/Complement Factor H

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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