Marinov I, Luxová A, Tkáčová V, Mikulenková D, Cermák J, Cetkovský P
Ústav Hematologie a Krevní Transfuze Praha, Reditel prof. MUDr Marek Trnĕný, CSc.
Vnitr Lek. 2012 Jan;58(1):31-7.
Paroxysmal nocturnal hemoglobinuria is an acquired clonal disease characterized by proliferation of stem cells, deficient of proteins linked to the membrane via glycophosphatidylinositol (GPI) anchors. PNH cell characterization by flow cytometry was introduced in 1986, since 1996 is considered as method of choice for PNH diagnosis. Flow cytometry PNH analysis is nowadays crucial for disease monitoring in terms of progression, regression, remission or response to therapy and screening for small PNH clones (< 1.0%) in patients with aplastic anemia or myelodysplastic syndrome. Flow cytometry is unfortunately still poorly standardized, there is a variety of different methodological approaches for PNH evaluation and results from external quality assurances schemes reveal heterogeneous results. The aim of this work is to review the applicability of flow cytometry for the diagnosis and monitoring of PNH with respect to our experience and in the context of the recent trends and guidelines for PNH evaluation by flow cytometry.
阵发性夜间血红蛋白尿是一种获得性克隆性疾病，其特征为干细胞增殖，缺乏通过糖基磷脂酰肌醇（GPI）锚定连接到膜上的蛋白质。1986年引入了通过流式细胞术对阵发性夜间血红蛋白尿（PNH）细胞进行表征的方法，自1996年以来该方法被视为PNH诊断的首选方法。如今，流式细胞术PNH分析对于疾病进展、消退、缓解或对治疗的反应监测以及再生障碍性贫血或骨髓增生异常综合征患者中小PNH克隆（<1.0%）的筛查至关重要。不幸的是，流式细胞术仍缺乏标准化，对于PNH评估存在多种不同的方法，外部质量保证计划的结果显示结果存在异质性。这项工作的目的是根据我们的经验，并结合流式细胞术评估PNH的最新趋势和指南，回顾流式细胞术在PNH诊断和监测中的适用性。
