Mutations in complement C3 from aHUS patients
نویسندگان
چکیده
منابع مشابه
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.
Atypical hemolytic uremic syndrome (aHUS) is a rare renal thrombotic microangiopathy commonly associated with rare genetic variants in complement system genes, unique to each patient/family. Here, we report 14 sporadic aHUS patients carrying the same mutation, R139W, in the complement C3 gene. The clinical presentation was with a rapid progression to end-stage renal disease (6 of 14) and an unu...
متن کاملBiomarkers of terminal complement activation confirm the diagnosis of aHUS and differentiate aHUS from TTP.
Atypical hemolytic uremic syndrome (aHUS) is characterized by dysregulated complement activity, the development of a thrombotic microangiopathy (TMA), and widespread end organ injury. aHUS remains a clinical diagnosis without an objective laboratory test to confirm the diagnosis. We performed a retrospective analysis of 103 patients enrolled in the Ohio State University TTP/aHUS Registry presen...
متن کاملC3 and C4 Complement Levels in Iron Deficiency Anemia
Background and Objectives: Complement proteins are some of the most important plasma proteins of the innate immune system. Impaired immune function is reported in subjects who are iron deficient, and there are documents that these patients are prone to infection. This study was conducted to show whether serum C3 and C4 complement change in adult nonpregnant female with iron deficient anemia or ...
متن کاملComplement mutations in DGKE-associated atypical hemolytic uremic syndrome. Running title: Complement mutations in DGKE-associated aHUS. Subject of manuscript: Inherited and genetics diseases
1) Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Madrid, Spain. 2) Centro de Investigación Biomédica en Enfermedades Raras, Madrid, Spain. 3) Department of Pediatrics, Division of Pediatric Nephrology. University of Bonn, Bonn, Germany. 4) Department of Nephrology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina 5) Servicio de N...
متن کاملGenetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
BACKGROUND Atypical HUS (aHUS) is thought to be caused by predisposing mutations in genes encoding complement (regulating) proteins, such as Factor H (CFH), Factor I (IF), membrane co-factor protein (MCP) and Factor B (FB), or by auto-antibodies against CFH (alphaFH) in combination with a homozygous polymorphic deletion of the genes encoding Complement Factor H-related 1 and 3 (DeltaCFHR1/3). T...
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ژورنال
عنوان ژورنال: Blood
سال: 2015
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2015-02-625285