Document Detail

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
MedLine Citation:
PMID:  17874135     Owner:  NLM     Status:  MEDLINE    
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.
Ajay P Sharma; Cheryl R Greenberg; Asuri N Prasad; Chitra Prasad
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-09-14
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  22     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-11-07     Completed Date:  2008-01-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  2097-103     Citation Subset:  IM    
Department of Pediatrics, University of Western Ontario, London, ON, Canada.
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MeSH Terms
Betaine / therapeutic use
Brain Diseases, Metabolic, Inborn / genetics*
Carnitine / therapeutic use
Carrier Proteins / genetics*,  metabolism
Combined Modality Therapy
DNA Mutational Analysis
Genetic Predisposition to Disease
Hemolytic-Uremic Syndrome / diagnosis,  genetics*,  therapy
Homocystinuria / genetics,  metabolism,  pathology
Hydroxocobalamin / therapeutic use
Infant, Newborn
Kidney Failure, Acute / etiology,  pathology
Longitudinal Studies
Methylmalonic Acid / urine
Proto-Oncogene Proteins c-cbl / deficiency,  genetics,  metabolism
Treatment Outcome
Vitamin B 12 / metabolism
Reg. No./Substance:
0/Carrier Proteins; 0/MMACHC protein, human; 107-43-7/Betaine; 13422-51-0/Hydroxocobalamin; 516-05-2/Methylmalonic Acid; 541-15-1/Carnitine; 68-19-9/Vitamin B 12; EC 6.3.2.-/CBLC protein, human; EC 6.3.2.-/Proto-Oncogene Proteins c-cbl

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

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