Rodrigues Fernanda, Kallas Marcia, Nash Ruth, Cheeseman Paul, D'Antiga Lorenzo, Rela Mohamed, Heaton Nigel D, Mieli-Vergani Giorgina
Institute of Liver Studies, King's College London School of Medicine, King's College Hospital, London, UK.
Liver Transpl. 2005 Nov;11(11):1417-24. doi: 10.1002/lt.20497.
The aim of our study was to compare the outcome of medical treatment vs. liver transplantation in infants with neonatal hemochromatosis (NH) referred to King's College Hospital from 1990-2002. We conducted a retrospective review of 19 children from 14 families. Fifteen children presented at birth and 4 during the first week of life. One child was diagnosed by cordocentesis at 30 weeks of gestation. NH recurred in 7 of 9 families with further children. In one family, 2 children from different fathers were affected. All patients had elevated ferritin levels, hypoalbuminemia, and coagulopathy. Liver histology showed parenchymal collapse, diffuse fibrosis, and moderate to severe hepatocyte hemosiderin deposition. Extrahepatic siderosis was demonstrated by magnetic resonance in 2 patients, lip biopsy in 3, and autopsy in 10. Ten patients received a chelation-antioxidant cocktail: 1 survived, 4 died, and 5 required liver transplantation, of whom 2 died. One of the 9 infants who did not receive the cocktail survived with medical support, 3 died, and 5 required transplantation, of whom 3 died. Seven children are alive, 5 after transplantation, at a median follow-up of 5.6 years, with excellent quality of life and no recurrence of the disease. In conclusion, chelation-antioxidant treatment does not appear to modify the prognosis of NH, at least in severe cases. Liver transplantation, with 50% long-term survival, remains the treatment of choice and should be promptly offered to those infants who do not improve with supportive medical treatment.
我们研究的目的是比较1990年至2002年间转诊至国王学院医院的新生儿血色病（NH）婴儿接受药物治疗与肝移植的结果。我们对来自14个家庭的19名儿童进行了回顾性研究。15名儿童在出生时就诊，4名在出生后第一周就诊。1名儿童在妊娠30周时通过脐血穿刺确诊。9个有更多子女的家庭中有7个家庭NH复发。在一个家庭中，来自不同父亲的2个孩子患病。所有患者均有铁蛋白水平升高、低白蛋白血症和凝血病。肝脏组织学显示实质塌陷、弥漫性纤维化以及中度至重度肝细胞含铁血黄素沉积。2例患者通过磁共振成像证实有肝外铁沉积，3例通过唇活检证实，10例通过尸检证实。10例患者接受了螯合 - 抗氧化鸡尾酒疗法：1例存活，4例死亡，5例需要肝移植，其中2例死亡。9例未接受该鸡尾酒疗法的婴儿中，1例在医学支持下存活，3例死亡，5例需要移植，其中3例死亡。7名儿童存活，5例为肝移植后存活，中位随访时间为5.6年，生活质量良好且疾病无复发。总之，螯合 - 抗氧化治疗似乎并未改变NH的预后，至少在严重病例中如此。肝移植长期生存率为50%，仍然是首选治疗方法，对于那些经支持性药物治疗无改善的婴儿应及时提供肝移植。
