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Pediatric Nephrology

Erschienen in:

01.12.2007 | Original Article

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

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

Erschienen in: Pediatric Nephrology | Ausgabe 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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Titel: Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder
verfasst von: Ajay P. Sharma
Cheryl R. Greenberg
Asuri N. Prasad
Chitra Prasad
Publikationsdatum: 01.12.2007
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 12/2007
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0604-1

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