Clayton P T
Institute of Child Health, University College London and Great Ormond Street Hospital for Children NHS Trust, London WCIN 1EH, UK.
J Inherit Metab Dis. 2003;26(2-3):135-46. doi: 10.1023/a:1024429032116.
Diagnosis of the metabolic disorder responsible for liver disease can sometimes be straightforward but it can also present a major challenge, particularly if the liver is sufficiently damaged to produce secondary biochemical abnormalities such as galactosuria, hypoglycaemia with hypoketonaemia, or excretion of 3-oxo-delta4 bile acids. It is important to consider the age of the patient, the nature of the liver disease, any extrahepatic clinical features, the imaging and the first-line laboratory tests when prioritizing diagnostic investigations. This article gives some examples of diagnoses made in our unit for patients with liver disease presenting in utero, in the neonatal period, in infancy and the preschool years, and in the school years. The differential diagnoses that should be considered for different clinical presentations are discussed.
对导致肝病的代谢紊乱进行诊断，有时可能很简单，但也可能带来重大挑战，尤其是当肝脏受损严重到产生继发性生化异常时，如半乳糖尿症、伴有低酮血症的低血糖症或3-氧代-δ4胆汁酸的排泄。在确定诊断检查的优先级时，考虑患者的年龄、肝病的性质、任何肝外临床特征、影像学检查和一线实验室检查非常重要。本文列举了我们科室对在子宫内、新生儿期、婴儿期、学龄前以及学龄期出现肝病的患者所做出的一些诊断实例。文中还讨论了针对不同临床表现应考虑的鉴别诊断。
