Research advances in the diagnosis and treatment of Pompe disease.
- Author:
Xin-Tong ZHANG
1
;
Wei-Dong REN
Author Information
1. Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang 110004, China. renwd01@163.com.
- Publication Type:Journal Article
- MeSH:
Animals;
Enzyme Replacement Therapy;
Glycogen Storage Disease Type II;
diagnosis;
enzymology;
genetics;
therapy;
Humans;
Targeted Gene Repair;
alpha-Glucosidases;
genetics;
metabolism
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(7):588-593
- CountryChina
- Language:Chinese
-
Abstract:
Pompe disease, also called type II glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) deficiency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients may have the manifestations of dyspnea and dyskinesia, with or without hypertrophic cardiomyopathy. GAA gene mutation has ethnic and regional differences, and new mutation sites are found with the advances in research. Gene analysis is the gold standard for the diagnosis of Pompe disease. Conventional methods, such as skin and muscle biopsies and dried blood spot test, have certain limitations for the diagnosis of this disease. In recent years, prenatal diagnosis and newborn screening play an important role in early diagnosis of this disease. Enzyme replacement therapy (ERT) has a satisfactory effect in the treatment of this disease, but it may lead to immune intolerance. New targeted gene therapy and modified ERT will be put into practice in the future. This article reviews the research advances in the diagnosis and treatment of Pompe disease.
