Bitar Rana, Thwaites Rosemary, Davison Suzanne, Rajwal Sanjay, McClean Patricia
*Paediatric Gastroenterology, Great North Children's Hospital, Newcastle †Paediatrics, James Cook University Hospital, Middlesbrough ‡Children's Liver Unit, Leeds Children's Hospital, Leeds, UK.
J Pediatr Gastroenterol Nutr. 2017 Jan;64(1):70-75. doi: 10.1097/MPG.0000000000001202.
Acute liver failure (ALF) in early infancy is rare and challenging to recognize and manage. We aim to describe the presentation and outcome of infants with ALF according to their final aetiology to elucidate features to facilitate early recognition leading to prompt diagnosis and management.
All infants presenting within 120 days from birth with liver failure were included in a retrospective review over a 19-year period. The aetiology, clinical features, presenting investigations, and outcome were collected.
Seventy-eight young infants presented with ALF. The aetiology was established in 94% and included metabolic disease (36%), hypoxic-ischaemic (HI) insult (19%), infection (17%), neonatal haemochromatosis (9%), and infiltrative disease (9%). Infections, infiltrative disease, and acute HI insult usually resulted in higher transaminases and international normalized ratio, whereas neonatal haemochromatosis and tyrosinaemia were characterized by lower or near normal transaminases. Overall jaundice was not visible in 24% of infants at presentation. Forty-five (58%) infants were alive at discharge from hospital. Survival at 1 year was 53% and survival with native liver 50%. Later deaths occurred in infants with mitochondrial disease. Six infants received a liver transplant and 4 subsequently died from their underlying disease.
ALF should be considered in any young infant with a coagulopathy as transaminases and/or bilirubin levels can be near normal at presentation. Better intensive care and the judicious use of liver transplantation may have contributed to the improved outcomes for this group compared with previous decades.
婴儿早期急性肝衰竭（ALF）罕见，识别和处理具有挑战性。我们旨在根据最终病因描述ALF婴儿的临床表现和结局，以阐明有助于早期识别从而实现快速诊断和处理的特征。
对出生后120天内出现肝衰竭的所有婴儿进行了为期19年的回顾性研究。收集病因、临床特征、检查结果及结局。
78例小婴儿出现ALF。94%的病因得以明确，包括代谢性疾病（36%）、缺氧缺血性（HI）损伤（19%）、感染（17%）、新生儿血色素沉着症（9%）和浸润性疾病（9%）。感染、浸润性疾病和急性HI损伤通常导致转氨酶和国际标准化比值升高，而新生儿血色素沉着症和酪氨酸血症的特点是转氨酶较低或接近正常。24%的婴儿就诊时无黄疸表现。45例（58%）婴儿出院时存活。1年生存率为53%，原位肝生存率为50%。线粒体疾病婴儿出现晚期死亡。6例婴儿接受了肝移植，4例随后死于基础疾病。
对于任何有凝血病的小婴儿均应考虑ALF，因为就诊时转氨酶和/或胆红素水平可能接近正常。与过去几十年相比，更好的重症监护和肝移植的合理应用可能有助于改善该组患儿的结局。
