关键词: 非典型溶血尿毒综合征, 基因突变, 补体调节

Abstract:

Recently, studies confirmed with the relationship between atypical Hemolytic uremic syndrome (aHUS) and gene mutations of many complement factors, activators and regulators. Gene screening is helpful for diagnosis and prognosis and predicts the outcome of renal transplantation. New focus on pathogenesis of aHUS is fusion protein product of CFH related protein 1 (CFHR1)/CFH rearrangements. Clinical trials show that proper complement regulation treatment could control aHUS development and improve prognosis. Eculizumab, plasma exchange, immunosuppressive therapy and organ transplantation are included in aHUS therapeutic guideline. Liver transplantation for patients before end stage renal disease needs further exploration. This review summarizes progression of diagnosis and treatment of aHUS.