The gain-of-function variation p.I1157T in C3 was previously identified in 8 patients with atypical hemolytic uremic syndrome (aHUS) at Mie University Hospital. In the present study, we identified another 11 patients with aHUS with this variation, including 10 pediatric patients (onset age: 1-16 years). The variation seems to be geographically concentrated around Mie Prefecture in Japan. Fifteen of the 19 patients with aHUS experienced infection as probable triggering events. All 19 patients had renal dysfunction. Seven patients, including 2 from the previous study and 5 from the present study, were treated with eculizumab, with all showing a good response with hematological normalization. Among the 5 eculizumab-treated patients in the present study, 3 had an ambiguous diagnosis of aHUS due to low-grade hemolysis even with elevated levels of lactate dehydrogenase and bilirubin. In those cases, in-house targeted DNA sequencing identified the C3 p.I1157T variation carriers, which enabled the early initiation of treatment with eculizumab. The present study supports the early introduction of eculizumab in patients with aHUS, especially pediatric patients.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714784 | PMC |
| http://dx.doi.org/10.1177/1076029618771750 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Case of Thrombotic Microangiopathy Secondary to Hypertensive Emergency: Presentation, Management, and Distinguishing Features.
Cureus
November 2024
Department of Medicine, Mercyhealth Graduate Medical Education (GME) Consortium, Rockford, USA.
Thrombotic microangiopathies (TMA) are a group of conditions that present with varying degrees of microthrombi, thrombocytopenia, microangiopathic hemolytic anemia, renal dysfunction, and neurological impairment. Etiologies can be primary, such as thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), and atypical hemolytic uremic syndrome (aHUS), or secondary, such as due to systemic infections, malignancies, immune-mediated conditions, and hypertensive emergencies. In hypertensive emergencies, this presentation can occur from mechanical stress placed on red blood cells as they pass through narrowed arteries due to edema and microangiopathic changes within the vessels themselves.
View Article and Find Full Text PDFCholecystectomy-induced thrombotic microangiopathy (TMA) in a postpartum patient successfully treated with eculizumab: a case report.
J Med Case Rep
December 2024
Department of Internal Medicine, University of California Irvine Medical Center, 333 City Blvd West, Suite 500, Orange, CA, 92868, USA.
Background: Thrombotic microangiopathy (TMA) is a rare, life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage. Atypical hemolytic uremic syndrome (aHUS) is even less common, comprising less than 10% of hemolytic uremic syndrome (HUS) cases. aHUS in postpartum is associated with poor maternal outcomes, with the majority of cases resulting in end-stage renal disease.
View Article and Find Full Text PDFPrimary and revision myringoplasty in children: Long-term outcome and analysis of the factors influencing the results.
J Otol
April 2024
Department of Otorhinolaryngology, Head and Neck Surgery, Head and Neck Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Objective: Assess the long-term outcome of pediatric myringoplasty.
Methods: Tympanoplasty type I, myringoplasty, was performed on 85 children (91 consecutive operations, 74 primary and 17 revisions) under 16 years of age. The perforations were sequela either to acute or chronic inflammatory middle ear disease.
Background: Atypical Hemolytic Uremic Syndrome (aHUS) is categorized as a thrombotic microangiopathy (TMA), which arises due to abnormal or unregulated complement pathway activation. While the disease frequently affects renal blood vessels, it can also involve multiple other organ systems. This review examines the prevalence and clinical outcomes of aHUS patients with extrarenal involvement.
View Article and Find Full Text PDFArthroscopic meniscal surgery in Norway from 2010 to 2020: A paradigmatic shift.
J Exp Orthop
October 2024
Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences NTNU Trondheim Norway.
Purpose: Meniscal injuries in the knee are usually treated surgically with arthroscopic partial resection (APR) or arthroscopic repair (AR). APR has been shown to increase the risk of osteoarthritis and the focus has shifted to repairing the meniscus with AR. The extent of this shift is yet to be established and an analysis of incidence rates (IR) of APR and AR for meniscal injuries could highlight this.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!