糖原贮积病Ⅰb型研究现状及治疗进展
The Current Status and Advance in Treatment of Glycogen Storage Disease Type Ⅰb
姜静婧 1马明圣1
作者信息
- 1. 中国医学科学院北京协和医院儿科,北京 100730
- 折叠
摘要
糖原贮积病是一组由于先天性酶缺陷所造成的代谢性疾病,其共同生化特征是糖原代谢异常,多数亚型可导致糖原在肝脏、肌肉、肾脏等组织中贮积量增加.糖原贮积病Ⅰ型是由于肝脏、肾脏和小肠的葡萄糖6磷酸酶缺陷所致,是肝糖原贮积病中最常见类型,分为Ⅰa型和Ⅰb型.近年来,糖原贮积病Ⅰb型的疾病分子机制研究逐渐深入,临床诊断水平有了显著提高,亦发现了新的基于发病机制的治疗方法.本文总结糖原贮积病Ⅰb型的诊断与筛查、分子遗传学机制及治疗的研究现状,并对未来的研究的机遇与挑战进行展望.
Abstract
Glycogen storage diseases(GSDs)refer to a group of metabolic disorders caused by con-genital enzyme deficiencies.This group of diseases are characterized by abnormal glycogen metabolism.Most subtypes can lead to increased glycogen accumulation in tissues of the liver,muscles,kidneys etc.GSD type Ⅰ(GSD Ⅰ)is the most common type of the liver glycogen storage diseases that are caused by a deficiency in glucose-6-phosphatase in the liver,kidneys,and intestines.This typle has two subtypes:type Ⅰa and type Ⅰb(GSD Ⅰb).Recently,research into the molecular mechanisms of GSD Ⅰb made further progress,leading to significant improvements in clinical diagnosis and the new treatment methods based on the patho-genesis.This article summarizes the current research status of diagnosis and screening,molecular genetic mechanisms,and treatment of GSD Ⅰb.The article also points out the opportunities,the challenges and fu-ture possibilities.
关键词
糖原贮积病Ⅰb型/葡萄糖6磷酸酶/机制/治疗Key words
glycogen storage disease type Ⅰb/glucose-6-phosphatase/mechanism/treatment引用本文复制引用
出版年
2024
NETL
NSTL
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