ReviewClinical & developmental immunology2012
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Review in Clinical & developmental immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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
19 citing papers in PubMed, 43 citations in OpenAlex.
- Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.Genes and immunity · 2019Trial
- Exploring the Intersection of Atypical Hemolytic Uremic Syndrome and Substance Use: A Comprehensive Narrative Review.Cureus · 2024Review
- Unusual Presentation of Aggressive Atypical Hemolytic Uremic Syndrome With Brugada Syndrome.Cureus · 2024Article
- The Rationale of Complement Blockade of the MCPInternational journal of molecular sciences · 2023Review
- Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Kidney diseases.Immunological reviews · 2023Review
- Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.International journal of molecular sciences · 2021Article
- Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.Kidney international reports · 2021Article
- Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome.Kidney international · 2020Article
- Molecular Studies and anFrontiers in medicine · 2020Article
- Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.Journal of immunology (Baltimore, Md. : 1950) · 2018Article
- De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.Case reports in nephrology · 2018Article
- Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Article
- Immunosuppressive Medications.Clinical journal of the American Society of Nephrology : CJASN · 2016Review
- Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.Journal of clinical immunology · 2015Article
- Shiga Toxin (Stx) Classification, Structure, and Function.Microbiology spectrum · 2014Review
- Atypical HUS: time to take stock of current guidelines and outcome measures?Pediatric nephrology (Berlin, Germany) · 2013Article
- Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation: A Case Report.Case reports in nephrology · 2013Article
- Overcoming technical challenges when treating atypical hemolytic uremic syndrome with therapeutic plasma exchange.International journal of nephrology and renovascular disease · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a rare renal disease (two per one million in the USA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Both sporadic (80% of cases) and familial (20% of cases) forms are recognized. The study of familial aHUS has implicated genetic variation in multiple genes in the complement system in disease pathogenesis, helping to define the mechanism whereby complement dysregulation at the cell surface level leads to both sporadic and familial disease. This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients. However, even with this bright outlook, major challenges remain to understand the complexity of aHUS at the genetic level. It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms.
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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.