Clayton Peter T
Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health, University College London and Great Ormond Street Hospital for Children, London, UK.
Semin Neonatol. 2002 Feb;7(1):49-63. doi: 10.1053/siny.2001.0086.
In neonates, inborn errors of metabolism can produce all the major signs of liver dysfunction - jaundice, coagulopathy, hepatomegaly, splenomegaly, ascites and encephalopathy. The significance of encephalopathy in the neonate is different from that in older patients; it is usually due to a specific abnormality such as hypoglycaemia rather than being a non-specific indicator of liver failure. Attention is focused on five neonatal presentations: unconjugated hyperbilirubinaemia, cholestatic jaundice with otherwise good liver function, severe liver dysfunction (jaundice, coagulopathy persisting after vitamin K, and ascites), hepatomegaly with hypotonia+/- cardiomyopathy; and hepatosplenomegaly. The metabolic disorders presenting in these ways are listed alongside specific clinical features that can aid differential diagnosis and tests that can be used to confirm or refute the diagnosis. Diagnosis is important because treatment can be dramatically effective, e.g. withdrawal of galactose in galactosaemia. Even when treatment is not effective it is often possible to offer prenatal diagnosis for future pregnancies.
在新生儿中，先天性代谢缺陷可导致肝功能障碍的所有主要体征——黄疸、凝血功能障碍、肝肿大、脾肿大、腹水和脑病。新生儿脑病的意义与年长患者不同；它通常是由特定异常（如低血糖）引起，而非肝功能衰竭的非特异性指标。重点关注五种新生儿表现：非结合性高胆红素血症、肝功能正常但伴有胆汁淤积性黄疸、严重肝功能障碍（黄疸、维生素K治疗后仍持续存在的凝血功能障碍和腹水）、肝肿大伴肌张力减退及/或心肌病；以及肝脾肿大。以这些方式呈现的代谢紊乱与有助于鉴别诊断的特定临床特征以及可用于确诊或排除诊断的检查一并列出。诊断很重要，因为治疗可能非常有效，例如在半乳糖血症中停用半乳糖。即使治疗无效，通常也能够为未来的妊娠提供产前诊断。
