Luzzatto Lucio
University of Genova Scientific Director Istituto Toscano Tumori, Via Taddeo Alderotti 26N, 50139 Firenze, Italy.
Curr Opin Genet Dev. 2006 Jun;16(3):317-22. doi: 10.1016/j.gde.2006.04.015. Epub 2006 May 2.
Paroxysmal nocturnal hemoglobinuria (PNH) is a severe hemolytic anemia caused by an intrinsic abnormality of the red blood cells that makes them exceedingly susceptible to the lytic action of activated complement (C). This abnormality results from a mutation in the PIG-A gene on Xp22. Given that the mutation is not inherited but is somatically acquired by a hematopoietic stem cell, it creates two populations of blood cells: normal cells and PNH cells. The clinical expression of PNH depends on the relative and absolute expansion of the PNH cell population, which probably depends, in turn, on a paradoxical growth advantage conferred to it by the existence in the patients of an autoimmune process that exerts negative selection against the 'normal' hematopoietic stem cells.
阵发性睡眠性血红蛋白尿症（PNH）是一种严重的溶血性贫血，由红细胞的内在异常引起，使它们极易受到活化补体（C）的溶解作用影响。这种异常是由位于Xp22上的PIG-A基因突变所致。鉴于该突变不是遗传而来，而是由造血干细胞体细胞获得，它产生了两种血细胞群体：正常细胞和PNH细胞。PNH的临床表型取决于PNH细胞群体的相对和绝对扩增，而这反过来可能又取决于患者体内存在的自身免疫过程赋予PNH细胞群体的一种矛盾的生长优势，该自身免疫过程对“正常”造血干细胞进行负向选择。
