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CFH gene mutation in a case of Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS).

AbstractBACKGROUND:
We report the case of a patient with Shiga toxin (Stx)-associated hemolytic-uremic syndrome (HUS) (STEC-HUS) with a concomitant heterozygous mutation of the gene coding for complement Factor H (CFH).
CASE DIAGNOSIS/TREATMENT:
An 18-month-old patient presented with hemolytic anemia and thrombotic microangiopathy in the context of acute gastroenteritis. While the patient did not show kidney or other organ failure, he had persistent hemolysis and complement 3 activation (low C3), leading to the decision to commence immunotherapy with eculizumab (Soliris®) together with transient antibiotic coverage and meningococcal vaccination. Patient outcome was favorable. Diagnostic work-up identified Escherichia coli-associated Type 2 Shiga toxin. Complement analysis showed a heterozygous mutation of the CFH gene (c.2103 G>A, p. Trp701X) resulting in a quantitative CFH defect.
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.
AuthorsCaroline Caillaud, Ariane Zaloszyc, Christoph Licht, Valérie Pichault, Véronique Frémeaux-Bacchi, Michel Fischbach
JournalPediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 31 Issue 1 Pg. 157-61 (Jan 2016) ISSN: 1432-198X [Electronic] Germany
PMID26399238 (Publication Type: Case Reports, Journal Article)
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
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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