Article
Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
Clinical journal of the American Society of Nephrology : CJASN - 5 Sept 2014
Sánchez Chinchilla Daniel, Pinto Sheila, Hoppe Bernd, Adragna Marta, Lopez Laura, Justa Roldan Maria Luisa, Peña Antonia, Lopez Trascasa Margarita, Sánchez-Corral Pilar, Rodríguez de Córdoba Santiago
Abstract excerpt
BACKGROUND AND OBJECTIVES: Atypical hemolytic uremic syndrome is characterized by vascular endothelial damage caused by complement dysregulation. Consistently, complement inhibition therapies are highly effective in most patients with atypical hemolytic uremic syndrome. Recently, it was shown that a significant percentage of patients with early-onset atypical hemolytic uremic syndrome carry mutations in...
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