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首页> 外文期刊>Cytometry: The Journal of the Society for Analytical Cytology >Application of flow cytometry to the diagnosis of paroxysmal nocturnal hemoglobinuria [Review]
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Application of flow cytometry to the diagnosis of paroxysmal nocturnal hemoglobinuria [Review]

机译：流式细胞仪在阵发性夜间血红蛋白尿的诊断中的应用[综述]

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摘要

Within the contemporary multitude of complex methods used in clinical flow cytometry, very few techniques exist which can he described as disease-specific diagnostic tests. Detection of glycophosphatidylinositol (GPI)-linked antigens on hematopoietic cells using monoclonal antibodies and flow cytometry forms the basis of a specific diagnostic test for paroxysmal nocturnal hemoglobinuria (PNH), Absent or markedly diminished expression of GPI-linked antigens is, in the appropriate clinical setting, specific for all patients with PNH, Clinically, PNH is a syndrome characterized by bone marrow failure, acquired hemolytic anemia, and a thrombotic tendency. The molecular genetic lesion responsible for this condition is a somatic mutation of the X-linked pig-a gene within a multipotent hematopoietic stem cell. Due to its rarity, delay in diagnosis is not uncommon for patients with PNH, Once a definitive diagnosis is established, this can make a considerable impact on patient management and prognosis. In this article, we review the complimentary roles that molecular biology and flow cytometry have played in unraveling the genotypic and phenotypic aspects of this unique condition. Cytometry (Comm. Clin, Cytometry) 42:223-233, 2000, (C) 2000 Wiley-Liss, Inc. [References: 71]
机译：在当今用于临床流式细胞术的众多复杂方法中，很少有可被描述为疾病特异性诊断测试的技术。使用单克隆抗体和流式细胞仪检测造血细胞上糖磷脂酰肌醇（GPI）关联的抗原是针对阵发性夜间血红蛋白尿（PNH）进行特异性诊断测试的基础，在适当的临床中，GPI关联抗原的表达缺失或明显减少对于所有PNH患者而言，这种情况都是特定的，在临床上，PNH是一种以骨髓衰竭，获得性溶血性贫血和血栓形成倾向为特征的综合征。导致这种情况的分子遗传病灶是多能造血干细胞内X连锁猪a基因的体细胞突变。由于其稀有性，PNH患者的诊断延迟并不罕见，一旦确定性诊断，将对患者的治疗和预后产生重大影响。在本文中，我们回顾了分子生物学和流式细胞仪在阐明这种独特情况的基因型和表型方面所起的互补作用。细胞计数法（Comm。Clin，细胞计数法）42：223-233，2000，（C）2000 Wiley-Liss，Inc. [参考：71]

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