Manivannan Prabhu, Ahuja Ankur, Pati Hara Prasad
Department of Pathology, JIPMER, Puducherry, India.
Department of Laboratory Services, Army Hospital for Research and Referral, New Delhi, India.
Indian J Hematol Blood Transfus. 2017 Dec;33(4):453-462. doi: 10.1007/s12288-017-0868-y. Epub 2017 Sep 8.
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder with its protean clinical manifestations. This is due to partial or complete absence of 'glycophosphatidyl-inositol-anchor proteins' (GPI-AP). The main aim of this review is to highlight various diagnostic modalities available, basic principle of each test and recent advances in the diagnosis of PNH. Recently among various tests available, the flow cytometry has become 'the gold standard' for PNH testing. In order to overcome the difficulties encountered by the testing and research laboratories throughout the world, International Clinical Cytometry Society has come up with guidelines regarding the indications for testing, protocol for sample collection, processing, panel of antibodies as well as gating strategies to be used, how to interpret the test and reporting format to be used. It is essential to test at least two GPI-linked markers on at least two different lineages particularly on red cells and granulocytes/monocytes. The fluorescent aerolysin combined with other monoclonal antibodies in multicolour flow cytometry offered an improved assay not only for diagnosis but also for monitoring of PNH clones. It is equally important to diagnose this rare entity with high index of suspicion.
阵发性睡眠性血红蛋白尿（PNH）是一种获得性克隆性造血干细胞疾病，临床表现多样。这是由于“糖磷脂酰肌醇锚定蛋白”（GPI-AP）部分或完全缺失所致。本综述的主要目的是强调现有的各种诊断方法、每项检测的基本原理以及PNH诊断的最新进展。最近，在现有的各种检测方法中，流式细胞术已成为PNH检测的“金标准”。为了克服世界各地检测和研究实验室遇到的困难，国际临床细胞计量学会提出了关于检测指征、样本采集、处理方案、抗体组合以及所用的设门策略、如何解读检测结果和报告格式的指南。至少在两个不同谱系上检测至少两种GPI连接标记物至关重要，尤其是在红细胞和粒细胞/单核细胞上。荧光气单胞菌溶素与多色流式细胞术中的其他单克隆抗体相结合，不仅为PNH克隆的诊断提供了一种改进的检测方法，也为其监测提供了改进方法。高度怀疑地诊断这种罕见疾病同样重要。
