遗传代谢性肝病的诊治

张亚南; 许影; 蒋畅; 高沿航

doi:10.3969/j.issn.1001-5256.2019.04.048

遗传代谢性肝病的诊治

DOI: 10.3969/j.issn.1001-5256.2019.04.048

吉林大学白求恩第一医院肝胆胰内科

基金项目:

国家重点研发计划“精准医学研究”重点专项(2017YFC0908100)；国家艾滋病和病毒性肝炎等重大传染病防治专项(2017ZX10202202)；吉林省科技发展计划项目(20160101097jc)；

详细信息

中图分类号: R575
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出版历程
- 出版日期: 2019-04-20

Diagnosis and treatment of inherited metabolic liver disease

Department of Hepatology, The First Hospital of Jilin University

Research funding:

摘要

摘要: 肝脏是大多数代谢途径的关键场所,因此在遗传代谢性疾病中肝脏一般最早被累及且损伤最重,某些遗传代谢性疾病的肝脏损伤甚至会发展为肝硬化甚至肝脏的恶性肿瘤,预后较差。遗传代谢性肝病临床表现复杂,常规诊断和治疗方法局限,是临床医生面临的棘手问题。随着细胞和分子生物学技术的发展,新的诊疗手段,如基因检测、基因治疗、干细胞移植等已逐步开展临床应用,为难治性患者带来希望。就肝豆状核变性、遗传性血色病、糖原累积病、α1-抗胰蛋白酶缺乏症、遗传性高胆红素血症、遗传性胆汁淤积等相对常见的遗传代谢性肝病的诊治进展作一综述。
- 肝疾病 /
- 代谢疾病 /
- 诊断 /
- 治疗学 /
- 综述
Abstract: The liver is the key place for most metabolic pathways, so it is often involved earliest and has the most severe injury, and liver injury of some inherited metabolic diseases may develop into liver cirrhosis and even malignant tumors of the liver and tended to have poor prognosis. Inherited metabolic liver disease often has complicated clinical manifestations, and the limitations of conventional diagnostic and therapeutic methods are difficult issues for clinical physicians. With the development of cellular and molecular biology techniques, new diagnostic and therapeutic methods, such as gene detection, gene therapy, and stem cell transplantation, have been gradually applied in clinical practice, bringing hope to patients with refractory diseases. This article reviews the recent advances in the diagnosis and treatment of inherited metabolic liver diseases commonly seen in clinical practice, such as hepatolenticular degeneration, hereditary hemochromatosis, glycogen storage disease, ɑ1-antitrypsin deficiency, hereditary hyperbilirubinemia, and hereditary cholestasis.
- liver diseases /
- metabolic diseases /
- diagnosis /
- therapeutics /
- review

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参考文献(34)

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