Visser A M, Kappers-Klunne M C, Cornelissen J J, van den Bent M J, Taal W
Afd. Neuro-oncologie, Erasmus MC-Daniel den Hoed Oncologisch Centrum, Postbus 5201, 3008 AE Rotterdam.
Ned Tijdschr Geneeskd. 2005 Jul 2;149(27):1528-32.
A 27-year-old woman with a history of aplastic anaemia complained of poor control of her right arm and hand, unsteady gait, and headache that increased while in a recumbent position. She was diagnosed with cerebral sinus thrombosis. Additional investigation revealed paroxysmal nocturnal haemoglobinuria (PNH). Treatment with heparin was initiated but stopped after the patient developed a brain haemorrhage. The patient recovered with no signs of residual symptoms and began taking oral anticoagulants as maintenance therapy. PNH is a rare acquired clonal disorder due to a defective expression of the glycosylphosphatidyl-inositol anchor membrane protein. It is characterised by haemolytic anaemia, diminished haematopoiesis, increased susceptibility for infections and a hypercoagulable state. Patients with aplastic anaemia have an increased risk of developing PNH. In patients with cerebral sinus thrombosis PNH should be considered as a possible underlying disorder. These patients should be questioned for possible clinical symptoms of PNH, such as acute abdominal pain or dark urine in the morning. For patients with these symptoms and in those with a history of aplastic anaemia or recurrent thrombosis, additional testing for PNH should be conducted.
一名有再生障碍性贫血病史的27岁女性，主诉右臂和右手控制不佳、步态不稳，以及卧位时加重的头痛。她被诊断为脑静脉窦血栓形成。进一步检查发现阵发性睡眠性血红蛋白尿症（PNH）。开始用肝素治疗，但在患者发生脑出血后停药。患者康复，无残留症状迹象，并开始服用口服抗凝剂作为维持治疗。PNH是一种罕见的获得性克隆性疾病，由于糖基磷脂酰肌醇锚膜蛋白表达缺陷所致。其特征为溶血性贫血、造血功能减退、易感性增加及高凝状态。再生障碍性贫血患者发生PNH的风险增加。对于脑静脉窦血栓形成患者，应考虑PNH作为可能的潜在疾病。应询问这些患者是否有PNH的可能临床症状，如急性腹痛或晨起深色尿。对于有这些症状的患者以及有再生障碍性贫血病史或复发性血栓形成的患者，应进行PNH的进一步检测。
