Timpani Giuseppina, Foti Francesca, Nicolò Antonino, Nicotina Pier Antonio, Nicastro Emanuele, Iorio Raffaele
Neonatal Intensive Care Unit, Ospedali Riuniti, Reggio Calabria, Italy.
J Hepatol. 2007 Nov;47(5):732-5. doi: 10.1016/j.jhep.2007.07.018. Epub 2007 Aug 30.
Neonatal hemochromatosis is a rare congenital disorder of the liver associated to a poor prognosis. Liver transplantation is often required, since no effective medical treatment has been found. Despite mounting evidence of an alloimmune etiology of this condition, exchange transfusion has never been proposed as a specific treatment for neonatal hemochromatosis. Here we describe two siblings affected by neonatal hemochromatosis. The first, a female, died at 18 days of severe coagulopathy and acute renal failure, diagnosed as affected by neonatal hemochromatosis only when the second sibling was suspected as being affected by the same disease. The second child showed a rapidly worsening coagulopathy which was treated with two exchange transfusions, followed by rapid clinical and laboratory improvement, before reaching a definite diagnosis of neonatal hemochromatosis. He is healthy at present after a follow-up of 12 months. Although exchange transfusion has never been considered as treatment for neonatal hemochromatosis, this case suggests that it could be a feasible treatment option for children affected by this disease, as for other alloimmune conditions.
新生儿血色沉着症是一种罕见的先天性肝脏疾病，预后较差。由于尚未发现有效的药物治疗方法，通常需要进行肝移植。尽管越来越多的证据表明这种疾病的同种免疫病因，但换血疗法从未被提议作为新生儿血色沉着症的特异性治疗方法。在此，我们描述了两名受新生儿血色沉着症影响的兄弟姐妹。第一个是女性，在18天时死于严重的凝血病和急性肾衰竭，仅在怀疑第二个兄弟姐妹患有同一种疾病时才被诊断为患有新生儿血色沉着症。第二个孩子表现出迅速恶化的凝血病，接受了两次换血治疗，随后临床和实验室指标迅速改善，最终确诊为新生儿血色沉着症。经过12个月的随访，他目前健康状况良好。尽管换血疗法从未被视为新生儿血色沉着症的治疗方法，但该病例表明，与其他同种免疫疾病一样，换血疗法可能是受这种疾病影响儿童的一种可行治疗选择。
