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Pediatr Nephrol. 2007 Dec;22(12):2097-103. Epub 2007 Sep 14.

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

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1
Department of Pediatrics, University of Western Ontario, London, ON, Canada. ajay.sharma@lhsc.on.ca

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.

PMID:
17874135
DOI:
10.1007/s00467-007-0604-1
[Indexed for MEDLINE]
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