Diagnosis of inherited disorders of liver metabolism
Diagnosis of inherited disorders of liver metabolism
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DOI：
10.1023/a:1024429032116
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发表时间：
2003-01-01
影响因子：
4.2
通讯作者：
Clayton, PT
中科院分区：
文献类型：
--
作者：
Clayton, PT
肝脏疾病代谢紊乱的诊断有时可以很简单，但也可能是一个重大挑战，特别是如果肝脏受损足以产生继发性生化异常，如半乳糖尿、低血糖伴低酮血症或3-氧代-δ（4）胆汁酸排泄。重要的是要考虑患者的年龄，肝病的性质，任何肝外临床特征，成像和一线实验室检查时，优先诊断调查。这篇文章给出了一些在我们的单位诊断肝病患者在子宫内，在新生儿期，在婴儿期和学龄前，并在学校的几年。不同的临床表现应考虑的鉴别诊断进行了讨论。
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-Delta(4) 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.