ArticlePediatric nephrology (Berlin, Germany)2016
CFH gene mutation in a case of Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS).
Article in Pediatric nephrology (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Microangiopathic Anemia.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2025Review
- Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome with recurrent acute cholecystitis: a case report.CEN case reports · 2024Article
- Constipation and hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Diagnosis and Treatment for Shiga Toxin-ProducingToxins · 2022Review
- Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis.Frontiers in immunology · 2022Article
- Ockham's razor defeated: about two atypical cases of hemolytic uremic syndrome.BMC nephrology · 2020Article
- Review
- Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.Pediatric nephrology (Berlin, Germany) · 2018Article
- Genetic Susceptibility to Postdiarrheal Hemolytic-Uremic Syndrome After Shiga Toxin-Producing Escherichia coli Infection: A Centers for Disease Control and Prevention FoodNet Study.The Journal of infectious diseases · 2018Article
- Complement C5-inhibiting therapy for the thrombotic microangiopathies: accumulating evidence, but not a panacea.Clinical kidney journal · 2017Article
- Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential.Clinical kidney journal · 2017Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe 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.
conclusionsWe 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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