Thollot F, Bordigoni P, Olive D
Arch Fr Pediatr. 1984 Mar;41(3):197-200.
The case of a 14 year-old adolescent girl presenting with paroxysmal nocturnal hemoglobinuria (PNH) associated with aplastic anemia is reported. This disease, rare in children, is characterized by an acquired hemolytic anemia, with abnormal sensitivity to complement: PNH actually affects the bone marrow stem cell. This explains its possible association with any type of malignant blood disease and with aplastic anemia. When aplastic anemia is the first sign of the disease, diagnosis is delayed, due to the possible negative response of the specific Ham's test. Therefore, the proper complications of PNH, especially thromboses, may be misappreciated and poorly managed.
报告了一例14岁青春期女孩患阵发性夜间血红蛋白尿(PNH)并伴有再生障碍性贫血的病例。这种疾病在儿童中罕见,其特征为获得性溶血性贫血,对补体异常敏感:PNH实际上影响骨髓干细胞。这解释了它可能与任何类型的恶性血液病以及再生障碍性贫血相关。当再生障碍性贫血是该疾病的首发症状时,由于特异性Ham试验可能出现阴性反应,诊断会延迟。因此,PNH的恰当并发症,尤其是血栓形成,可能会被误诊且处理不当。