National Institute of Immunohaematology, KEM Hospital, Parel, Mumbai, India.
Eur J Haematol. 2009 Dec 1;83(6):503-11. doi: 10.1111/j.1600-0609.2009.01338.x. Epub 2009 Aug 17.
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired clonal disorder of haematopoietic stem cells. The molecular defect in PNH is mutation in the phosphotidylinositol glycan complementation class A (PIGA gene) causing defect in glycosylphosphatidylinositol anchored proteins (Cell, 73, 1993, 703). The deficiency of these GPI-anchored proteins on the membranes of haematopoietic cells lead to the various clinical manifestations of PNH. Clinically PNH is classified into classic PNH, PNH in the setting of another specified bone marrow disorder and sub clinical PNH. Size of the PNH clone differs in these different subtypes. The management of PNH has been revolutionized by the advent of monoclonal antibody, eculizumab. Thus, today it is important to have sensitive tests to diagnose and monitor the clone size in patients of PNH. Before 1990, diagnosis of PNH was made using complement based tests. However in the last decade, flowcytometry has become the gold standard diagnostic test as it has increased sensitivity to detect small clones, ability to measure clone size and is not affected by blood transfusions. This review is aimed to focus mainly on the different methods available for the detection of PNH clone and the recent advances and recommendations for the flowcytometric diagnosis of PNH.
阵发性睡眠性血红蛋白尿症（PNH）是一种罕见的后天性造血干细胞克隆疾病。PNH 的分子缺陷是磷脂酰肌醇聚糖补体 A 类（PIGA 基因）突变，导致糖基磷脂酰肌醇锚定蛋白缺陷（Cell，1993 年 73 期，703 页）。这些糖基磷脂酰肌醇锚定蛋白在造血细胞膜上的缺乏导致 PNH 的各种临床表现。临床上，PNH 分为经典 PNH、另一种特定骨髓疾病背景下的 PNH 和亚临床 PNH。这些不同亚型中 PNH 克隆的大小不同。单克隆抗体依库珠单抗的出现彻底改变了 PNH 的治疗方法。因此，如今，拥有敏感的检测方法来诊断和监测 PNH 患者的克隆大小非常重要。在 1990 年之前，PNH 的诊断是使用基于补体的检测方法进行的。然而，在过去的十年中，流式细胞术已成为金标准诊断检测方法，因为它提高了检测小克隆的灵敏度、测量克隆大小的能力，并且不受输血的影响。这篇综述主要旨在关注检测 PNH 克隆的不同方法，以及流式细胞术诊断 PNH 的最新进展和建议。
