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Pediatric Nephrology
Published in: Pediatric Nephrology 12/2007

01-12-2007 | Original Article

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

Authors: Ajay P. Sharma, Cheryl R. Greenberg, Asuri N. Prasad, Chitra Prasad

Published in: Pediatric Nephrology | Issue 12/2007

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Abstract

Diarrhea-positive hemolytic uremic syndrome (HUS) is a common cause of acute renal failure in children. Diarrhea-negative (D−), or atypical HUS, is etiologically distinct. A Medline search identified seven previously reported D− cases of HUS secondary to cobalamin C (cblC) disease presenting in infancy. An infantile presentation is reported to be associated with a high mortality rate (6/7 cases). We describe the results of a 5-year longitudinal follow-up in a child diagnosed with D− HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. We briefly review the published experience in cblC-associated HUS to highlight the clinical characteristics of this uncommon, but potentially treatable, condition.
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Metadata
Title
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder
Authors
Ajay P. Sharma
Cheryl R. Greenberg
Asuri N. Prasad
Chitra Prasad
Publication date
01-12-2007
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 12/2007
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-007-0604-1

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Referees for 2007

Reviews submitted from August 1st, 2006 to August 31st, 2007