Pediatric Nephrology

, Volume 22, Issue 12, pp 2097–2103 | Cite as

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

  • Ajay P. Sharma
  • Cheryl R. Greenberg
  • Asuri N. Prasad
  • Chitra Prasad
Original Article
First Online:
Received:
Revised:
Accepted:

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.

Keywords

HUS Cobalamin C Acute renal failure Autosomal recessive 

Abbreviations

HUS

hemolytic uremic syndrome

D−

diarrhea negative

Cbl

cobalamin

cblC

cobalamin C

MMA

methylmalonic acid

AdoCbl

adenosylcobalamin

MeCbl

methylcobalamin

MMACHC gene

methylmalonic aciduria cblC type with homocystinuria gene

TMA

thrombotic microangiopathy

vWF-protease

von Willebrand factor-cleaving protease

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Notes

Acknowledgements

We are grateful to the patient and her mother. Our sincere thanks to the staff of the Metabolic Program at the Children’s Hospital of Winnipeg (Dr. Mhanni, Tara Dzwiniel, Judy Saltel-Olson, Dr. Lorne Seargent). We thank Dr. Malcolm Ogborn (pediatric nephrologist), Dr. Charuta Joshi (pediatric neurologist), and Dr. Diane Moddemann (developmental specialist) for providing clinical care for the patient. We are grateful to Dr. David Rosenblatt and his lab (McGill Montreal) for performing the fibroblast and molecular studies.

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Copyright information

© IPNA 2007

Authors and Affiliations

  • Ajay P. Sharma
    • 1
    • 2
    • 6
  • Cheryl R. Greenberg
    • 3
  • Asuri N. Prasad
    • 1
    • 4
  • Chitra Prasad
    • 1
    • 5
  1. 1.Department of PediatricsUniversity of Western OntarioLondonCanada
  2. 2.Section of NephrologyUniversity of Western OntarioLondonCanada
  3. 3.Department of Pediatrics and Child HealthUniversity of ManitobaWinnipegCanada
  4. 4.NeurologyUniversity of Western OntarioLondonCanada
  5. 5.GeneticsUniversity of Western OntarioLondonCanada
  6. 6.Childrens Hospital of Western OntarioLondon Health Sciences CentreLondonCanada

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