Cerebral ischemic infarction in paroxysmal nocturnal hemoglobinuria - Report of 2 cases and updated review of 7 previously published patients
Cerebral ischemic infarction in paroxysmal nocturnal hemoglobinuria - Report of 2 cases and updated review of 7 previously published patients
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DOI：
10.1007/s00415-005-0871-3
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发表时间：
2005-11-01
影响因子：
6
通讯作者：
Haberl, RL
中科院分区：
文献类型：
--
作者：
Audebert, HJ;Planck, J;Haberl, RL
背景：阵发性夜间血红蛋白尿（PNH）是一种获得性克隆干细胞疾病，导致造血细胞表面蛋白的生物合成缺陷。临床症状包括血管内溶血、骨髓衰竭和静脉血栓事件的各种组合。动脉血栓形成仅在少数情况下被描述。方法报告2例因动脉闭塞致缺血性脑卒中致死性PNH患者。此外，我们还回顾了先前文献中报道的7例病例，并获得了5例幸存者中4例的随访信息。结果2例患者在血管事件发生前均有血红蛋白尿和血细胞减少，但其中1例PNH的诊断是在卒中发作后才确定的。PNH的因果作用得到了其他血管危险因素的缺乏以及同时出现溶血和细胞减少症状的支持。流式细胞术阳性证实了PNH的诊断。尽管延长了治疗干预，包括抗血栓治疗（肝素或替罗非班）和减压半脑切除术，但两名患者都出现了进一步的血栓并发症。这两名患者在住院期间死于血管或感染性并发症。对所有9例已发表病例的回顾显示，4例患者在最初血栓事件发生后几周内死亡。结果良好或不良的患者在治疗上没有差别。结论PNH是一种罕见的动脉性脑卒中病因，但在血液异常的年轻脑卒中患者中应予以考虑。到目前为止，还没有有效的抗血栓治疗。
Background Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal stem cell disorder, leading to a deficient biosynthesis of surface proteins hematopoetic cells. Clinical symptoms consist of various combinations of intravascular hemolysis, bone marrow failure and mainly venous thrombotic events. Arterial thrombosis has been described only in a few cases. Methods We report two patients with fatal ischemic strokes in PNH caused by arterial occlusion. In addition we also reviewed 7 previously reported cases in the literature and obtained follow-up information on 4 of the 5 survivors. Results Both patients from our clinic had experienced hemoglobinuria and cytopenia prior to the vascular events but in one case diagnosis of PNH was only established after stroke onset. The causal role of PNH was supported by the absence of other vascular risk factors and by simultaneous symptoms of hemolysis and cytopenia. The diagnosis of PNH was confirmed by a positive result in flow cytometry. Despite extended therapeutic interventions, including antithrombotic treatment (with heparin or tirofiban) and decompressive hemicraniectomy both patients developed further thrombotic complications. The two patients died during their hospital stay from vascular or infectious complications. A review of all 9 published cases revealed that four patients died within a few weeks after the initial thrombotic event. No difference in treatment between patients with good or bad outcome was seen. Conclusions PNH is a rare cause of arterial stroke but it should be considered in young stroke patients with abnormal blood findings. As yet, there is no effective antithrombotic treatment.