Department of Pediatrics, Children's Hospital of Michigan, 3901 Beaubien St,, Detroit, MI 48201, USA.
Ital J Pediatr. 2010 May 18;36:38. doi: 10.1186/1824-7288-36-38.
Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recognized cause of liver failure in neonates with Trisomy 21 is neonatal hemochromatosis (NH); this association has been reported in nine cases of Trisomy 21 in literature. NH is a rare, severe liver disease of intra-uterine onset that is characterized by neonatal liver failure and hepatic and extrahepatic iron accumulation that spares the reticuloendothelial system. NH is the most frequently recognized cause of liver failure in neonates and the commonest indication for neonatal liver transplantation. Although porto-pulmonary hypertension (PPH) has been reported as a complication of liver failure in adults and older children, this has not been reported in neonates with liver failure of any etiology. This is probably due to the rarity of liver failure in newborns, delayed diagnosis and high mortality. The importance of recognizing PPH is that it is reversible with liver transplantation but at the same time increases the risk of post-operative mortality. Therefore, early diagnosis of PPH is critical so that early intervention can improve the chances of successful liver transplantation. We report for the first time the association of liver failure with porto-pulmonary hypertension secondary to NH in an infant with Trisomy 21.
新生儿肝衰竭是一种罕见但常致命的疾病。唐氏综合征通常与严重的婴儿期肝病无关。如果唐氏综合征婴儿存在肝功能障碍，其原因可能是肝浸润的造血细胞引起的短暂骨髓增生异常，且可能伴有继发性血色素沉着症。唐氏综合征新生儿肝衰竭的另一个不太常见的原因是新生儿血色病（NH）；在文献中已有 9 例唐氏综合征合并 NH 的报道。NH 是一种罕见的、严重的先天性肝脏疾病，其特征为新生儿肝衰竭和肝内及肝外铁蓄积，网状内皮系统不受累。NH 是新生儿肝衰竭最常见的原因，也是新生儿肝移植最常见的适应证。尽管已经报道了成人和大龄儿童肝衰竭的并发症为门肺高压（PPH），但在任何病因引起的新生儿肝衰竭中尚未见报道。这可能是由于新生儿肝衰竭的罕见性、诊断延迟和高死亡率所致。认识到 PPH 的重要性在于它可以通过肝移植逆转，但同时增加了术后死亡率的风险。因此，早期诊断 PPH 至关重要，以便早期干预可以提高成功进行肝移植的机会。我们首次报道了一例唐氏综合征婴儿因 NH 引起的肝衰竭伴门肺高压。
