ArticleInternational journal of hematology2014
Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation.
Article in International journal of hematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 49 citations in OpenAlex.
- Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis · 2018Trial
- C3 p.Asp1115Asn Variant-associated Atypical Hemolytic Uremic Syndrome with Spontaneous Remission Triggered by Influenza and COVID-19.Internal medicine (Tokyo, Japan) · 2026Article
- Case Report: Complement-mediated thrombotic microangiopathy masquerading as a pancreatic mass.Frontiers in medicine · 2026Article
- Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Article
- Atypical hemolytic uremic syndrome with aFrontiers in pediatrics · 2025Article
- Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.Immunological reviews · 2023Review
- Chikungunya virus as a trigger for different renal disorders: an exploratory study.Journal of nephrology · 2022Article
- Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation.Internal medicine (Tokyo, Japan) · 2021Article
- Early Elevation of Complement Factor Ba Is a Predictive Biomarker for Transplant-Associated Thrombotic Microangiopathy.Frontiers in immunology · 2021Article
- Eculizumab for Severe Thrombotic Microangiopathy Secondary to Surgical Invasive Stress and Bleeding.Internal medicine (Tokyo, Japan) · 2020Article
- Atypical haemolytic uremic syndrome from multiple missenses to a full-blown disease.BMJ case reports · 2019Article
- Atypical Hemolytic Uremic Syndrome With the p.Ile1157Thr C3 Mutation Successfully Treated With Plasma Exchange and Eculizumab: A Case Report.Critical care explorations · 2019Article
- Pathogenesis of Atypical Hemolytic Uremic Syndrome.Journal of atherosclerosis and thrombosis · 2019Review
- Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.Frontiers in immunology · 2019Article
- Influenza-associated thrombotic microangiopathies.Pediatric nephrology (Berlin, Germany) · 2018Review
- Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.Clinical and experimental nephrology · 2018Article
- A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.Scientific reports · 2017Article
- Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.Research and practice in thrombosis and haemostasis · 2017Article
- Occurrence of atypical HUS associated with influenza B.European journal of pediatrics · 2017Article
- Case report - atypical hemolytic uremic syndrome triggered by influenza B.BMC nephrology · 2017Article
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atypical hemolytic uremic syndrome (aHUS) is caused by abnormalities of the complement system and has a significantly poor prognosis. The clinical phenotypes of 12 patients in nine families with aHUS with familial or recurrent onset and ADAMTS13 activity of ≥20 % treated at the Mie University Hospital were examined. In seven of the patients, the first episode of aHUS occurred during childhood and ten patients experienced a relapse. All patients had renal dysfunction and three had been treated with hemodialysis. Seven patients experienced probable triggering events including common cold, influenza, bacterial infection and/or vaccination for influenza. All patients had entered remission, and renal function was improved in 11 patients. DNA sequencing of six candidate genes, identified a C3 p.I1157T missense mutation in all eight patients in six families examined and this mutation was causative for aHUS. A causative mutation THBD p.D486Y was also identified in an aHUS patient. Four missense mutations, CFH p.V837I, p.Y1058H, p.V1060L and THBD p.R403K may predispose to aHUS manifestation; the remaining seven missense mutations were likely neutral. In conclusion, the clinical phenotypes of aHUS are various, and there are often trigger factors. The C3 p.I1157T mutation was identified as the causative mutation for aHUS in all patients examined, and may be geographically concentrated in or around the Mie prefecture in central Japan.
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