Abstract | BACKGROUND: CASE DIAGNOSIS/TREATMENT: CONCLUSIONS: We report a case of STEC-HUS with a quantitative CFH defect caused by a mutation of the CFH gene. To the best of our knowledge, very few cases of STEC-HUS with complement gene mutation have been reported, but none to date with a CFH mutation. We therefore suggest that complement analyses be performed in patients diagnosed with STEC-HUS in association with low C3 levels, especially in patients presenting with severe or unexpected clinical symptoms.
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Authors | Caroline Caillaud, Ariane Zaloszyc, Christoph Licht, Valérie Pichault, Véronique Frémeaux-Bacchi, Michel Fischbach |
Journal | Pediatric nephrology (Berlin, Germany)
(Pediatr Nephrol)
Vol. 31
Issue 1
Pg. 157-61
(Jan 2016)
ISSN: 1432-198X [Electronic] Germany |
PMID | 26399238
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Anti-Bacterial Agents
- Antibodies, Monoclonal, Humanized
- Biomarkers
- C3 protein, human
- CFH protein, human
- Complement C3
- Genetic Markers
- Immunologic Factors
- Meningococcal Vaccines
- Complement Factor H
- eculizumab
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Topics |
- Adolescent
- Anti-Bacterial Agents
(therapeutic use)
- Antibodies, Monoclonal, Humanized
(therapeutic use)
- Biomarkers
(blood)
- Complement C3
(analysis)
- Complement Factor H
(genetics)
- DNA Mutational Analysis
- Escherichia coli Infections
(complications, diagnosis, drug therapy, microbiology)
- Genetic Markers
- Genetic Predisposition to Disease
- Hemolytic-Uremic Syndrome
(blood, diagnosis, drug therapy, genetics, microbiology)
- Heterozygote
- Humans
- Immunologic Factors
(therapeutic use)
- Male
- Meningococcal Vaccines
(therapeutic use)
- Mutation
- Phenotype
- Risk Factors
- Shiga-Toxigenic Escherichia coli
(pathogenicity)
- Treatment Outcome
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