Flynn D M, Mohan N, McKiernan P, Beath S, Buckels J, Mayer D, Kelly D A
Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
Arch Dis Child Fetal Neonatal Ed. 2003 Mar;88(2):F124-7. doi: 10.1136/fn.88.2.f124.
To evaluate the role of antioxidant treatment and liver transplantation in the management of neonatal haemochromatosis.
A retrospective review was performed of eight infants with acute liver failure and raised ferritin levels between 1990 and 1998. From 1994, treatment with an antioxidant cocktail (vitamin E, N-acetylcysteine, selenium, prostaglandin E1, and desferrioxamine) was begun once the diagnosis was suspected. Pathological and other findings were reviewed, and outcome before and after antioxidant treatment was evaluated.
Median age at presentation was 4 days with median ferritin levels of 4180 micro g/l (range 1650-40 000 micro g/l; normal range 110-503 micro g/l). Three infants presented before 1994. One infant died before liver transplantation from acute liver failure and one from neurological damage after transplantation. The third patient underwent successful transplantation at day 13 and remains well on follow up 8 years later. From 1994, five patients received antioxidant treatment, of whom two responded: both responders started antioxidants earlier (by day 5) than non-responders and had lower peak ferritin levels (< 4200 micro g/l) and a milder phenotype. Treatment was continued until ferritin levels were < 500 micro g/l. Both children remain well with mean follow up of 42 months, with no recurrence of iron overload. One child showed a partial response to treatment and survived long enough for a liver transplant, but died from graft failure after the transplant. Two children did not respond to antioxidant treatment; both had multiorgan failure and were not listed for transplantation. Only three of the eight patients survived (37.5%) over this time period.
Neonatal haemochromatosis can be a fatal disease with > 60% mortality. Early treatment with antioxidant cocktail is beneficial and may be curative in those who present with milder phenotype. Liver transplantation should always be considered at an early stage in non-responders and in children with more severe acute liver failure.
评估抗氧化治疗及肝移植在新生儿血色病治疗中的作用。
对1990年至1998年间8例急性肝衰竭且铁蛋白水平升高的婴儿进行回顾性研究。从1994年起，一旦怀疑诊断，即开始用抗氧化剂鸡尾酒（维生素E、N - 乙酰半胱氨酸、硒、前列腺素E1和去铁胺）进行治疗。回顾病理及其他检查结果，并评估抗氧化治疗前后的预后情况。
就诊时的中位年龄为4天，中位铁蛋白水平为4180μg/l（范围1650 - 40000μg/l；正常范围110 - 503μg/l）。3例婴儿于1994年前就诊。1例婴儿在肝移植前死于急性肝衰竭，1例在移植后死于神经损伤。第3例患者于第13天成功接受移植，8年后随访情况良好。从1994年起，5例患者接受了抗氧化治疗，其中2例有反应：2例有反应者开始使用抗氧化剂的时间（第5天）比无反应者早，且铁蛋白峰值水平较低（<4200μg/l），表型较轻。治疗持续至铁蛋白水平<500μg/l。2例患儿在平均42个月的随访中情况良好，无铁过载复发。1例患儿对治疗有部分反应，存活时间足够长以接受肝移植，但移植后死于移植物衰竭。2例患儿对抗氧化治疗无反应；二者均有多器官衰竭，未被列入移植名单。在此期间，8例患者中仅3例存活（37.5%）。
新生儿血色病可能是一种致命疾病，死亡率>60%。早期用抗氧化剂鸡尾酒治疗有益，对于表型较轻者可能治愈。对于无反应者及急性肝衰竭更严重的患儿，应尽早考虑肝移植。
