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Abstract：
Paroxysmal nocturnal hemoglobinuria (PNH) arises as a consequence of the non-malignant clonal expansion of one or more hematopoietic stem cells with an acquired somatic mutation of the PIGA gene (Brodsky RA. Blood 113 (2009) 6522-6527). Progeny of affected stem cells are deficient in glycosyl phosphatidylinositol-anchored proteins (GPI-APs). This deficiency is readily detected by flow cytometry. Though this seems straightforward, the clinical utility of this testing requires that the ordering clinician understand not only the characteristics of the test, but also the biology of the underlying disease, and the clinical and laboratory manifestations in the individual patient. When interpreted correctly, the results from PNH flow cytometry testing, including presence and size of the clonal populations and the cell types involved, can allow the clinician to classify the disease appropriately; evaluate the risk of disease progression; and subsequently monitor response to therapy. In these guidelines, we discuss the evaluation of a patient with suspected PNH or other bone marrow failure disorders, with specific emphasis on the contribution of this testing to the diagnosis, classification, and monitoring of patients. For convenience we will commonly refer to these flow cytometry studies as \"PNH testing\" recognizing that an abnormal result is not diagnostic of PNH; rather both laboratory and clinical features are used to establish this diagnosis. © 2017 International Clinical Cytometry Society.
摘要：
阵发性夜间血红蛋白尿（PNH）是由于一种或多种造血干细胞的非恶性克隆扩增而产生的，该造血干细胞具有PIGA基因的获得性体细胞突变（BrodskyRA。血液113（2009）6522-6527）。受影响的干细胞的后代缺乏糖基磷脂酰肌醇锚定蛋白（GPI-AP）。这种缺陷很容易通过流式细胞术检测到。虽然这看起来很简单，这种测试的临床实用性要求订购的临床医生不仅要了解测试的特征，还有潜在疾病的生物学，以及个体患者的临床和实验室表现。如果解释正确，PNH流式细胞仪检测的结果，包括克隆种群的存在和大小以及所涉及的细胞类型，可以允许临床医生对疾病进行适当分类;评估疾病进展的风险;并随后监测对治疗的反应。在这些准则中,我们讨论对一名疑似PNH或其他骨髓衰竭患者的评估，特别强调这种测试对诊断的贡献，分类，以及对患者的监测。为方便起见，我们通常将这些流式细胞术研究称为“PNH测试”，认识到异常结果不能诊断PNH；而是使用实验室和临床特征来建立这种诊断。©2017国际临床细胞计数学会。
