Trial reportBlood2006
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.
Trial report in Blood, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 300 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
300 citing papers in PubMed, 4 syntheses or guidelines pooled it, 729 citations in OpenAlex.
- Extrarenal manifestations of atypical hemolytic uremic syndrome: a systematic review and meta-analysis.Pediatric research · 2025Pooled it
- New findings in preventing recurrence and improving renal function in AHUS patients after renal transplantation treated with eculizumab: a systemic review and meta-analyses.Renal failure · 2023Pooled it
- Pregnancy-Associated Atypical Hemolytic Uremic Syndrome: A Systematic Review.Obstetrics and gynecology · 2020Pooled it
- Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea.Journal of Korean medical science · 2016Guideline
- Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.Genes and immunity · 2019Trial
- Trial
- Influenza A(H1N1) triggered atypical hemolytic uremic syndrome in a child with homozygous CD46 variant successfully treated with ravulizumab: a case report.CEN case reports · 2026Article
- Impaired cellular trafficking of a thrombomodulin mutant causes severe bleeding, thrombosis, and atypical hemolytic uremic syndrome.Blood vessels, thrombosis & hemostasis · 2026Article
- Article
- Incidence and severity of extrarenal manifestations and outcomes in pediatric hemolytic uremic syndrome: a retrospective cohort study.Pediatric nephrology (Berlin, Germany) · 2026Article
- Recurrent Atypical Hemolytic-Uremic Syndrome (aHUS) Associated With CD46 Genetic Mutation: A Report of a Rare Case.Cureus · 2026Article
- Complement mediated thrombotic microangiopathy after liver transplantation in combination with a novel C6 variant of uncertain significance.Frontiers in immunology · 2026Article
- Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome.BMC nephrology · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Demographics and baseline disease characteristics of UK patients within the global aHUS registry.BMC nephrology · 2025Article
- Friend or foe: assessing the value of animal models for facilitating clinical breakthroughs in complement research.The Journal of clinical investigation · 2025Review
- Hemolytic uremic syndrome in severe acute pancreatitis.Oxford medical case reports · 2025Article
- Atypical Hemolytic Uremic Syndrome: A Review of Complement Dysregulation, Genetic Susceptibility and Multiorgan Involvement.Journal of clinical medicine · 2025Review
- Haemolytic uremic syndrome as a cause of chronic kidney disease stage 5 in children is in retreat: results from the Polish Registry of Kidney Replacement Therapy in children (2000-2023).Pediatric nephrology (Berlin, Germany) · 2025Article
- The role of complement factor I rare genetic variants in age related macular degeneration in Finland.Human molecular genetics · 2025Article
240 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 2 institutions in 2 countries.
Funding
Abstract
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non-Shiga toxin-associated HUS (non-Stx-HUS). We undertook genetic analysis on membrane cofactor protein (MCP), complement factor H (CFH), and factor I (IF) in 156 patients with non-Stx-HUS. Fourteen, 11, and 5 new mutational events were found in MCP, CFH, and IF, respectively. Mutation frequencies were 12.8%, 30.1%, and 4.5% for MCP, CFH, and IF, respectively. MCP mutations resulted in either reduced protein expression or impaired C3b binding capability. MCP-mutated patients had a better prognosis than CFH-mutated and nonmutated patients. In MCP-mutated patients, plasma treatment did not impact the outcome significantly: remission was achieved in around 90% of both plasma-treated and plasma-untreated acute episodes. Kidney transplantation outcome was favorable in patients with MCP mutations, whereas the outcome was poor in patients with CFH and IF mutations due to disease recurrence. This study documents that the presentation, the response to therapy, and the outcome of the disease are influenced by the genotype. Hopefully this will translate into improved management and therapy of patients and will provide the way to design tailored treatments.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.