| Title |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder
|
|---|---|
| Published in |
Pediatric Nephrology, September 2007
|
| DOI | 10.1007/s00467-007-0604-1 |
| Pubmed ID | |
| Authors |
Ajay P. Sharma, Cheryl R. Greenberg, Asuri N. Prasad, Chitra Prasad |
| 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. |
Mendeley readers
The data shown below were compiled from readership statistics for 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Czechia | 1 | 2% |
| Unknown | 51 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 17% |
| Student > Master | 8 | 15% |
| Other | 6 | 12% |
| Student > Doctoral Student | 5 | 10% |
| Student > Ph. D. Student | 5 | 10% |
| Other | 13 | 25% |
| Unknown | 6 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 29 | 56% |
| Agricultural and Biological Sciences | 4 | 8% |
| Psychology | 3 | 6% |
| Nursing and Health Professions | 2 | 4% |
| Chemistry | 2 | 4% |
| Other | 5 | 10% |
| Unknown | 7 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 November 2014.
All research outputs
#15,310,749
of 22,771,140 outputs
Outputs from Pediatric Nephrology
#2,716
of 3,535 outputs
Outputs of similar age
#59,971
of 69,921 outputs
Outputs of similar age from Pediatric Nephrology
#19
of 21 outputs
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