ArticleJournal of the American Society of Nephrology : JASN2014
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Article in Journal of the American Society of Nephrology : JASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 7 of them syntheses that pooled it.
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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.
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Who cites it
103 citing papers in PubMed, 7 syntheses or guidelines pooled it, 234 citations in OpenAlex.
- Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach From the Writing Committee of the American Society for Apheresis: The Tenth Special Issue.Journal of clinical apheresis · 2026Guideline
- Complement-amplified thrombotic microangiopathy in systemic lupus erythematosus and lupus nephritis: a systematic review of 78 reported patients.Frontiers in immunology · 2026Pooled it
- Systematic review of atypical hemolytic uremic syndrome biomarkers.Pediatric nephrology (Berlin, Germany) · 2022Pooled it
- Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics.Pharmacological reviews · 2021Pooled it
- Association among Complement Factor H Autoantibodies, Deletions of CFHR, and the Risk of Atypical Hemolytic Uremic Syndrome.International journal of environmental research and public health · 2016Pooled it
- Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea.Journal of Korean medical science · 2016Guideline
- Clinical guides for atypical hemolytic uremic syndrome in Japan.Clinical and experimental nephrology · 2016Guideline
- Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.Genes and immunity · 2019Trial
- Trial
- Efficacy and safety of eculizumab in atypical hemolytic uremic syndrome from 2-year extensions of phase 2 studies.Kidney international · 2015Trial
- Beyond complement: comprehensive assessment of factor XIII plasma dynamics and genetics in atypical hemolytic uremic syndrome.Research and practice in thrombosis and haemostasis · 2026Article
- Serum complement C3 as a candidate biomarker for monitoring progression from chronic kidney disease to kidney failure.International urology and nephrology · 2026Article
- Early recognition of atypical hemolytic uremic syndrome to prevent irreversible kidney injury: cardiac failure and refractory hypertension as critical clues in young patients.CEN case reports · 2026Article
- Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy.BMC nephrology · 2026Article
- Excellent Response to Eculizumab in a Patient With Complement-Mediated Thrombotic Microangiopathy and a Novel Plasminogen Gene Variant.Case reports in hematology · 2026Article
- Clinical and genetic characteristics of patients diagnosed with atypical hemolytic uremic syndrome (aHUS): epidemiological data from the Belgian cohort of the Global aHUS Registry.Journal of nephrology · 2025Observational
- Observational
- The impact of the COVID-19 pandemic on incidence and clinical presentation of thrombotic microangiopathies: data from a laboratory centralizing ADAMTS-13 testing in Quebec.Orphanet journal of rare diseases · 2025Article
- Plasminogen mutation-associated thrombotic microangiopathy and role of anticoagulation: a single institution case series.Research and practice in thrombosis and haemostasis · 2025Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
43 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by uncontrolled activation of the alternative pathway of complement at the cell surface level that leads to microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. In approximately one half of affected patients, pathogenic loss-of-function variants in regulators of complement or gain-of-function variants in effectors of complement are identified, clearly implicating complement in aHUS. However, there are strong lines of evidence supporting the presence of additional genetic contributions to this disease. To identify novel aHUS-associated genes, we completed a comprehensive screen of the complement and coagulation pathways in 36 patients with sporadic aHUS using targeted genomic enrichment and massively parallel sequencing. After variant calling, quality control, and hard filtering, we identified 84 reported or novel nonsynonymous variants, 22 of which have been previously associated with disease. Using computational prediction methods, 20 of the remaining 62 variants were predicted to be deleterious. Consistent with published data, nearly one half of these 42 variants (19; 45%) were found in genes implicated in the pathogenesis of aHUS. Several genes in the coagulation pathway were also identified as important in the pathogenesis of aHUS. PLG, in particular, carried more pathogenic variants than any other coagulation gene, including three known plasminogen deficiency mutations and a predicted pathogenic variant. These data suggest that mutation screening in patients with aHUS should be broadened to include genes in the coagulation pathway.
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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.