ReviewInternational journal of molecular sciences2023
Underlying Genetics of aHUS: Which Connection with Outcome and Treatment Discontinuation?
Review in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed, 17 citations in OpenAlex.
- A review of genetic and epigenetic biomarkers involved in the occurrence of atypical hemolytic uremic syndrome and its therapeutic strategies.Molecular biology reports · 2026Review
- C3 p.Asp1115Asn Variant-associated Atypical Hemolytic Uremic Syndrome with Spontaneous Remission Triggered by Influenza and COVID-19.Internal medicine (Tokyo, Japan) · 2026Article
- Diagnostic Challenges in Atypical Hemolytic Uremic Syndrome: A Case of Artificial Mitral Valve Dysfunction as a Possible Trigger for Severe Thrombotic Microangiopathy.The American journal of case reports · 2026Article
- Atypical hemolytic uremic syndrome in a patient with thalassemia and a CFH gene mutation: a case report.Frontiers in medicine · 2026Article
- Atypical hemolytic uremic syndrome treated with anti-C5 antibody agent eculizumab, without genetic complement abnormalities.Nagoya journal of medical science · 2025Article
- Atypical hemolytic uremic syndrome is not always complement mediated: lesson for the clinical nephrologist.Journal of nephrology · 2025Article
- Atypical Hemolytic Uremic Syndrome: A Review of Complement Dysregulation, Genetic Susceptibility and Multiorgan Involvement.Journal of clinical medicine · 2025Review
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Complement-mediated HUS revisited: evolving insights into pathophysiology, diagnosis, and treatment.Frontiers in immunology · 2025Review
- Terminal complement inhibition in atypical haemolytic uremic syndrome: a single-centre experience.Frontiers in pharmacology · 2025Article
- Hemostasis and complement in allogeneic hematopoietic stem cell transplantation: clinical significance of two interactive systems.Bone marrow transplantation · 2024Review
- Exploring the Intersection of Atypical Hemolytic Uremic Syndrome and Substance Use: A Comprehensive Narrative Review.Cureus · 2024Review
- Global aHUS Registry Analysis of Patients Switching to Ravulizumab From Eculizumab.Kidney international reports · 2024Article
- Vascular injury in glomerulopathies: the role of the endothelium.Frontiers in nephrology · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by a genetic dysregulation of the alternative complement pathway, characterized by thrombocytopenia, hemolytic anemia, and acute kidney injury, and included in the group of thrombotic microangiopathies. With the introduction of humanized monoclonal antibodies that inhibit C5 activation, the natural history of aHUS completely changed, with a better prognosis, a quick recovery of renal function, and a significant reduction of end-stage renal disease incidence. Nowadays, there is an increasing interest in the molecular and genetic bases of this severe disease. The aim of this narrative review is to provide readers with a practical guide about different possible involved genes, elucidating the specific role of each transcribed protein in the pathogenesis of aHUS. Moreover, we analyzed the main current evidence about the relationship among genetic mutations, outcomes, and the risk of recurrence of this manifold disease.
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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.