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Clinical and Experimental Nephrology
Published in: Clinical and Experimental Nephrology 5/2009

01-10-2009 | Case Report

Hemolytic uremic syndrome due to homozygous factor H deficiency

Authors: Sidharth Kumar Sethi, Dragon-Durey Marie-Agnes, Neelam Thaker, Pankaj Hari, Arvind Bagga

Published in: Clinical and Experimental Nephrology | Issue 5/2009

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Abstract

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.
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Metadata
Title
Hemolytic uremic syndrome due to homozygous factor H deficiency
Authors
Sidharth Kumar Sethi
Dragon-Durey Marie-Agnes
Neelam Thaker
Pankaj Hari
Arvind Bagga
Publication date
01-10-2009
Publisher
Springer Japan
Published in
Clinical and Experimental Nephrology / Issue 5/2009
Print ISSN: 1342-1751
Electronic ISSN: 1437-7799
DOI
https://doi.org/10.1007/s10157-009-0205-3

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