Current status of research on the diagnosis and specific treatment of glycogen storage disease type Ⅱ
10.3760/cma.j.cn101070-20220818-00983
- VernacularTitle:糖原贮积症Ⅱ型诊断及特异性治疗研究现状
- Author:
Pan WANG
1
;
Yingchao LIU
;
Suyun QIAN
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院重症医学科，北京 100045
- Keywords:
Glycogen storage disease type Ⅱ;
Pompe disease;
Enzyme replacement therapy;
Gene therapy;
Recombinanthumanalglucosidase alfa
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(1):65-68
- CountryChina
- Language:Chinese
-
Abstract:
Glycogen storage disease type Ⅱ (GSDⅡ) is a rare autosomal recessive disorder.Infant onset of GSDⅡ usually accompanies progressive cardiac hypertrophy and muscle weakness, and eventually dies of cardiopulmonary failure.GSDⅡ is mainly screened and diagnosed by enzymatic and genetic tests.Enzyme replacement therapy (ERT) is the only currently approved treatment of GSDⅡ, which can effectively improve the function of the affected organs and the survival.Gene therapy and substrate reduction therapy for GSDⅡ are also undergoing basic or clinical research.This review summarizes the current research status of the diagnosis and treatment of GSDⅡ at home and abroad, focusing on the influencing factors for the efficacy of specific treatment (especially ERT), dosing regimen, and ways to improve the efficacy.
