Complement mutations in DGKE-associated atypical hemolytic uremic syndrome. Running title: Complement mutations in DGKE-associated aHUS. Subject of manuscript: Inherited and genetics diseases
نویسندگان
چکیده
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 Nefrología Pediátrica, Hospital Universitario Infantil Miguel Servet. Zaragoza, Spain 6) Servicio de Nefrología Pediátrica, Hospital Universitario La Paz/IdiPAZ, Madrid, Spain 7) Unidad de Inmunología, Hospital Universitario La Paz/IdiPAZ, Madrid, Spain. 8) Unidad de Investigación, Hospital Universitario La Paz/IdiPAZ, Madrid, Spain.
منابع مشابه
DGKE disruption ditches complement and drives p38 signaling.
In this issue of Blood, Bruneau et al provide evidence that disruption of diacylglycerol kinase e isoform (DGKe) does not upregulate complement activation, but rather induces endothelial damage via the activation of p38 mitogen–activated protein kinase (MAPK). These in vitro findings may support a new pathophysiologic mechanism for atypical hemolytic uremic syndrome (aHUS) in a subset of patien...
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Hemolytic uremic syndrome (HUS) is a rare, life-threatening disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. The atypical form of HUS (aHUS), representing 5 to 10% of cases, lacks the association with infection by Shiga toxin producing Escherichia coli strains that characterizes the commonest clinical presentation of HUS. In the majority of ...
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BACKGROUND Atypical hemolytic uremic syndrome (aHUS) is a rare disease that is often associated with genetic defects. Mutations of complement factor H (CFH) are the most common genetic defects that cause aHUS and often result in end-stage renal disease. Since CFH is mainly produced in the liver, liver transplantation (LT) has been performed in patients with defective CFH. METHODS The clinical...
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Mutations in the complement regulators factor H, membrane cofactor protein (MCP), and factor I are associated with atypical hemolytic uremic syndrome (aHUS, MIM 235400), suggesting that the disease develops as a consequence of the inefficient protection of the renal endothelium from damage by the complement system. Incomplete penetrance of the disease in individuals carrying these mutations is,...
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Hemolytic uremic syndrome (HUS) is an important cause of acute renal failure in children. Mutations in one or more genes encoding complement-regulatory proteins have been reported in approximately one-third of nondiarrheal, atypical HUS (aHUS) patients, suggesting a defect in the protection of cell surfaces against complement activation in susceptible individuals. Here, we identified a subgroup...
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