Davies S M, Szabo E, Wagner J E, Ramsay N K, Weisdorf D J
Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
Bone Marrow Transplant. 1996 Jun;17(6):1119-25.
Idiopathic hyperammonemia (IHA) has been described as a rare complication of intensive chemotherapy, but there is little data regarding its occurrence after bone marrow transplantation (BMT). IHA is defined as elevated plasma ammonia concentrations (> 200 mumol/l) in the absence of significant liver function abnormality. From a 21 year BMT database of 2358 patients, we have identified 12 patients (0.5%) with IHA, ages 19 to 46 years. Diagnoses included ALL (n = 2), AML (n = 4), CLL (n = 1), CML (n = 3) and aplastic anemia (n = 2). Eight received marrow from a matched sibling donor, three from an unrelated donor and one autologous marrow. IHA occurred between 14 and 106 days after transplant (median, 25 days). Most frequently patients presented with symptoms of a metabolic encephalopathy, with lethargy and confusion evolving into unresponsiveness, metabolic coma and in eight cases, seizures. At diagnosis of IHA, liver functions were normal or only modestly abnormal. Ten of the 12 patients died 1 to 9 days (median 3.5 days) after diagnosis of IHA despite treatment with combinations of dialysis and ammonia-trapping therapy. While IHA is a rare complication of BMT, it is associated with a high mortality. Early recognition of the syndrome by measurement of plasma ammonia concentrations in patients with neurological symptoms may improve outcome.
特发性高氨血症（IHA）已被描述为强化化疗的一种罕见并发症，但关于其在骨髓移植（BMT）后发生的数据很少。IHA的定义为在无明显肝功能异常的情况下血浆氨浓度升高（>200μmol/L）。从一个拥有2358例患者的21年BMT数据库中，我们识别出12例（0.5%）IHA患者，年龄在19至46岁之间。诊断包括急性淋巴细胞白血病（ALL，n = 2）、急性髓细胞白血病（AML，n = 4）、慢性淋巴细胞白血病（CLL，n = 1）、慢性髓细胞白血病（CML，n = 3）和再生障碍性贫血（n = 2）。8例接受了来自匹配同胞供体的骨髓，3例来自无关供体，1例接受自体骨髓。IHA发生在移植后14至106天（中位数为25天）。患者最常出现代谢性脑病症状，起初为嗜睡和意识模糊，进而发展为无反应、代谢性昏迷，8例患者出现癫痫发作。在诊断IHA时，肝功能正常或仅有轻度异常。12例患者中有10例在诊断IHA后1至9天（中位数3.5天）死亡，尽管接受了透析和氨捕获疗法联合治疗。虽然IHA是BMT的一种罕见并发症，但它与高死亡率相关。通过测量有神经症状患者的血浆氨浓度来早期识别该综合征可能会改善预后。
