Röth A, Dührsen U, Schrezenmeier H, Schubert J
Klinik für Hämatologie, Universitätsklinikum Essen, Universität Duisburg-Essen.
Dtsch Med Wochenschr. 2009 Feb;134(9):404-9. doi: 10.1055/s-0028-1124013. Epub 2009 Feb 17.
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the classic clinical triad of corpuscular hemolytic anemia, thrombophilia and cytopenia. This is caused by an acquired mutation of the PIG(phosphatidylinositol glycan)-A gene of the pluripotent hematopoetic stem cell. This results in a deficiency of GPI(glycosylphosphatidylinositol)-anchors and GPI-anchored proteins on the surface of affected blood cells. Flow cytometry is the standard for diagnosis and measurement of type and size of the PNH clone. Treatment of PNH is mainly symptomatic. Allogeneic bone marrow transplantation is the only curative option in case of severe complications during the course of the diseases. A new targeted treatment strategy is the inhibition of the terminal complement cascade with a monoclonal antibody (eculizumab). As shown in clinical studies this is efficient to reduce complement mediated intravascular hemolysis, reduce the need for transfusions, improve the quality of life in patients with PNH and reduce the risk for thromboembolic complications, which are the main cause of mortality in PNH.
阵发性睡眠性血红蛋白尿（PNH）的特征是具有典型的临床三联征，即红细胞性溶血性贫血、血栓形成倾向和血细胞减少。这是由多能造血干细胞的PIG（磷脂酰肌醇聚糖）-A基因发生获得性突变引起的。这导致受影响血细胞表面的GPI（糖基磷脂酰肌醇）锚和GPI锚定蛋白缺乏。流式细胞术是诊断以及测定PNH克隆类型和大小的标准方法。PNH的治疗主要是对症治疗。在疾病过程中出现严重并发症时，异基因骨髓移植是唯一的治愈选择。一种新的靶向治疗策略是用单克隆抗体（依库珠单抗）抑制末端补体级联反应。临床研究表明，这对于减少补体介导的血管内溶血、减少输血需求、改善PNH患者的生活质量以及降低血栓栓塞并发症的风险有效，而血栓栓塞并发症是PNH患者死亡的主要原因。
