Inborn errors presenting with liver dysfunction.
Inborn errors presenting with liver dysfunction.
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DOI：
10.1053/siny.2001.0086
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发表时间：
2002-02-01
期刊：
影响因子：
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通讯作者：
Clayton, Peter T
中科院分区：
文献类型：
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作者：
Clayton, Peter T
在新生儿中，先天性代谢缺陷可产生肝功能障碍的所有主要症状——黄疸、凝血病、肝肿大、脾肿大、腹水和脑病。新生儿脑病的意义与老年患者不同；它通常是由于低血糖等特定异常引起的，而不是肝衰竭的非特定指标。重点关注五种新生儿表现：非结合性高胆红素血症、胆汁淤积性黄疸（肝功能良好）、严重肝功能障碍（黄疸、服用维生素 K 后持续出现凝血功能障碍和腹水）、肝肿大伴肌张力低下+/-心肌病；和肝脾肿大。以这些方式呈现的代谢紊乱与特定的临床特征一起列出，这些特征可以帮助鉴别诊断和可用于确认或反驳诊断的测试。诊断很重要，因为治疗可以非常有效，例如半乳糖血症中半乳糖的戒断。即使治疗无效，通常也可以为未来的怀孕提供产前诊断。
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.