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.
MeSH terms
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Acute Kidney Injury / etiology
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Acute Kidney Injury / pathology
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Betaine / therapeutic use
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Brain Diseases, Metabolic, Inborn / genetics*
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Carnitine / therapeutic use
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Carrier Proteins / genetics*
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Carrier Proteins / metabolism
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Combined Modality Therapy
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DNA Mutational Analysis
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Female
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Genetic Predisposition to Disease
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Hemolytic-Uremic Syndrome / diagnosis
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Hemolytic-Uremic Syndrome / genetics*
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Hemolytic-Uremic Syndrome / therapy
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Homocystinuria / genetics
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Homocystinuria / metabolism
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Homocystinuria / pathology
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Homozygote
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Humans
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Hydroxocobalamin / therapeutic use
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Infant, Newborn
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Longitudinal Studies
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Methylmalonic Acid / urine
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Mutation*
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Oxidoreductases
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Proto-Oncogene Proteins c-cbl / deficiency
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Proto-Oncogene Proteins c-cbl / genetics
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Proto-Oncogene Proteins c-cbl / metabolism
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Treatment Outcome
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Vitamin B 12 / metabolism
Substances
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Carrier Proteins
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Betaine
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Methylmalonic Acid
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MMACHC protein, human
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Oxidoreductases
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Proto-Oncogene Proteins c-cbl
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CBLC protein, human
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Vitamin B 12
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Hydroxocobalamin
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Carnitine