先天性糖基化障碍与肝脏疾病

库尔班江·阿布都西库尔; 王建设

doi:10.3969/j.issn.1001-5256.2019.08.006

先天性糖基化障碍与肝脏疾病

DOI: 10.3969/j.issn.1001-5256.2019.08.006

复旦大学附属儿科医院肝病科

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中图分类号: R575
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出版历程
- 收稿日期: 2019-06-26
- 出版日期: 2019-08-20

Congenital disorders of glycosylation and liver diseases

Department of Hepatology, Children's Hospital of Fudan University

摘要

摘要:
先天性糖基化障碍(CDG)是近年来快速增长的一组遗传代谢性疾病,由蛋白或脂肪的异常糖基化所致。随着二代测序技术的问世和普及,人类在不断发现新的糖基化相关基因突变导致的疾病。糖蛋白及糖脂合成是肝脏主要功能之一,众多的CDG影响肝胆结构及功能,可导致脂肪肝、肝纤维化及胆管板发育异常。阐述了CDG及相关肝脏病变的发病机制、诊断及治疗等方面的新进展。
- 先天性糖基化病 /
- 诊断 /
- 糖组学
Abstract:
Congenital disorders of glycosylation (CDGs) is a group of inherited metabolic diseases caused by abnormal glycosylation of protein or lipids, and the number of CDGs are increasing rapidly in recent years. With the advent and popularization of next-generation sequencing, more and more disorders associated with glycosylation-related gene mutations have been discovered. Synthesis of glycoproteins and glycolipids is one of the major roles of the liver, and many CDGs affect hepatobiliary structure or function and may lead to fatty liver disease, liver fibrosis, and ductal plate malformation. This article reports the latest advances in the pathogenesis, diagnosis, and treatment of CDGs and related liver diseases.
- congenital disorders of glycosylation /
- diagnosis /
- glycomics

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参考文献(30)

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