阵发性睡眠性血红蛋白尿延迟诊断1例病史及文献复习

韩 国雄, 石 青武, 李 文倩, 解友 邦*
青海省人民医院　血液科

摘要


阵 发 性 睡 眠 性 血 红 蛋 白 尿 症（paroxysmal nocturnal hemoglobinuria，PNH） 由 于 磷 脂 酰 肌 醇 聚 糖A类
（phosphatidylinositol glycan class-A，PIGA）基因突变致GPI锚定的表面蛋白CD55和CD59的缺失，导致血管内溶血引起
贫血、酱油色血红蛋白尿、出血、黄疸、肝脾肿大和血栓的形成等表现，临床上一定重视隐匿性血尿导致的缺铁性贫
血，慢性溶血和不易察觉的黄疸等症状，同时对出现上述症状时除CD55、CD59测定外，积极行FLAER检测识别红细
胞、粒细胞和单核细胞PNH克隆细胞，正确认识PIGA基因突变的价值，以免血液肿瘤基因突变报告单关于PIGA基因
突变临床意义的解释的判读，忽略在PNH良性疾病中的临床价值，避免PNH的诊断延迟，造成治疗的不及时。此外
PNH患者需预防各类感染，尤其是预防各类病毒或细菌感染以免急速加重病情，防治感染导致的死亡事件的发生。

关键词


阵发性睡眠性血红蛋白尿；贫血；诊断；治疗

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参考


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