ReviewMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2018
The genetics of atypical hemolytic uremic syndrome.
Review in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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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.
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Who cites it
22 citing papers in PubMed, 52 citations in OpenAlex.
- Atypical Hemolytic Uremic Syndrome in Children and Adults With the Hot Spot C3 Gene Variant p.Arg161Trp.Kidney international reports · 2026Article
- Diagnosis and treatment of complement-mediated thrombotic microangiopathies: consensus of the Genetic Diseases Committee of the Chilean Society of Nephrology.BMC nephrology · 2026Review
- Excellent Response to Eculizumab in a Patient With Complement-Mediated Thrombotic Microangiopathy and a Novel Plasminogen Gene Variant.Case reports in hematology · 2026Article
- How I Treat: Genetic Testing in Atypical Hemolytic Uremic Syndrome.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Case Report: Effective use of eculizumab in treating recurrent atypical HUS following renal transplantation triggered by SARS-CoV-2 infection.Frontiers in medicine · 2025Article
- Article
- Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation.Journal of clinical immunology · 2023Article
- Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Modeling complement activation on human glomerular microvascular endothelial cells.Frontiers in immunology · 2023Article
- Kidney diseases.Immunological reviews · 2023Review
- Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome.European journal of immunology · 2022Article
- Challenges in Diagnosis and Management of Glomerular Disease in Resource-Limited Settings.Kidney international reports · 2022Article
- Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Case series: coronavirus disease 2019 infection as a precipitant of atypical hemolytic uremic syndrome: two case reports.Journal of medical case reports · 2021Article
- Patient-specific iPSC-derived endothelial cells reveal aberrant p38 MAPK signaling in atypical hemolytic uremic syndrome.Stem cell reports · 2021Article
- Hemolytic Uremic Syndrome in Children.Turkish archives of pediatrics · 2021Article
- Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on theBalkan journal of medical genetics : BJMG · 2021Article
- Outcomes of a clinician-directed protocol for discontinuation of complement inhibition therapy in atypical hemolytic uremic syndrome.Blood advances · 2021Article
- A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.Frontiers in immunology · 2021Article
- Generation and Characterization of Mouse Models of C3 Glomerulonephritis With CFI D288G and P467S Mutations.Frontiers in physiology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by thrombocytopenia and microangiopathic hemolytic anemia due to endothelial injury. aHUS is felt to be caused by defective complement regulation due to underlying genetic mutations in complement regulators or activators, most often of the alternative pathway. Mutations causing aHUS can be subdivided into two groups, loss of function mutations (affecting factor H, factor H-related proteins, membrane co-factor protein, and factor I), and gain of function mutations (affecting factor B and C3). As more information becomes available on the relationship between specific mutations and clinical outcome, complete genetic workup of aHUS patients becomes more and more important. In this review, we will discuss the genetic background of aHUS, the role of complement for aHUS pathogenesis, and the different groups of specific mutations known to be involved in the pathogenesis of aHUS.
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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.