Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria
Update on the diagnosis and management of paroxysmal nocturnal hemoglobinuria
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DOI：
10.1182/asheducation-2016.1.208
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发表时间：
2016-12-01
影响因子：
3
通讯作者：
Parker, Charles J.
中科院分区：
文献类型：
--
作者：
Parker, Charles J.
一旦怀疑阵发性睡眠性血红蛋白尿症（PNH），当外周血流式细胞术分析显示糖基磷脂酰肌醇锚蛋白缺陷细胞时，诊断是简单的。但PNH在临床上是异质性的，一些患者的疾病过程的特点是丰富的血管内，补体介导的溶血，而在其他人中，骨髓衰竭占主导地位的临床图片与温和的，甚至没有证据表明溶血观察。临床异质性是由于PNH和免疫介导的骨髓衰竭之间的密切关系，虽然不完全理解，PNH是一种获得性的，非恶性的造血干细胞克隆性疾病。骨髓衰竭使PNH的管理复杂化，因为红细胞生成受损在或多或少的程度上导致贫血;此外，突变干细胞克隆在个体患者中扩增的程度决定了疾病溶血成分的大小。了解PNH的独特病理生物学与补体生理学和免疫介导的骨髓衰竭的关系，为系统的管理方法提供了基础。
Once suspected, the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) is straightforward when flow cytometric analysis of the peripheral blood reveals a population of glycosyl phosphatidylinositol anchor protein-deficient cells. But PNH is clinically heterogeneous, with some patients having a disease process characterized by florid intravascular, complement-mediated hemolysis, whereas in others, bone marrow failure dominates the clinical picture with modest or even no evidence of hemolysis observed. The clinical heterogeneity is due to the close, though incompletely understood, relationship between PNH and immune-mediated bone marrow failure, and that PNH is an acquired, nonmalignant clonal disease of the hematopoietic stem cells. Bone marrow failure complicates management of PNH because compromised erythropoiesis contributes, to a greater or lesser degree, to the anemia; in addition, the extent to which the mutant stem cell clone expands in an individual patient determines the magnitude of the hemolytic component of the disease. An understanding of the unique pathobiology of PNH in relationship both to complement physiology and immune-mediated bone marrow failure provides the basis for a systematic approach to management.