遗传代谢性肝病的临床特征及诊断思路

彭姗姗; 杨永峰

doi:10.3969/j.issn.1001-5256.2019.08.002

遗传代谢性肝病的临床特征及诊断思路

DOI: 10.3969/j.issn.1001-5256.2019.08.002

南京中医药大学附属南京医院南京市第二医院肝病科

基金项目:

江苏省科技厅临床专项(BL2013004)；

详细信息

中图分类号: R575
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出版历程
- 收稿日期: 2019-05-02
- 出版日期: 2019-08-20

Clinical features and diagnosis of inherited metabolic liver disease

Department of Hepatology, Nanjing Hospital Affiliated to Nanjing University of Chinese Medicine & The Second Hospital of Nanjing

Research funding:

摘要

摘要: 遗传代谢性肝病病因复杂,种类多样,临床表现无特异性,诊断困难,容易漏诊、误诊,需结合患者症状、体征、实验室检查、影像学检查、肝穿刺病理、基因检测等做出正确的临床诊断,为早期治疗提供依据。因此,从临床中发现线索对于诊断该病有着重要的作用,现对遗传代谢性肝病的临床线索及临床诊断思路进行总结。
- 遗传代谢性肝病 /
- 体征和症状 /
- 诊断
Abstract: Inherited metabolic liver disease has complex etiologies and various types, and its clinical manifestations lack specificity, which may lead to missed diagnosis and misdiagnosis. A clinical diagnosis should be given based on symptoms, signs, laboratory examination, imaging findings, liver biopsy, and gene detection, in order to provide a basis for early treatment. Therefore, clues from clinical examination play an important role in the diagnosis of this disease. This article summarizes the clinical clues and diagnostic ideas of inherited metabolic liver disease.
- metabolic liver disease /
- signs and symptoms /
- diagnosis

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参考文献(29)

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