Clinical characteristics and gene analysis of one case of glycogen storage disease type Ⅱ
10.3760/cma.j.cn341190-20210107-00024
- VernacularTitle:糖原累积病Ⅱ型一例临床特点及基因分析
- Author:
Xiangyun ZHANG
1
;
Yazhou WANG
;
Dufei ZHANG
Author Information
1. 海南省妇女儿童医学中心 海南省儿童医院儿童心血管内科，海口 570000
- Keywords:
Glycogen storage disease type Ⅱ;
Patient acuity;
Genetic testing;
Multilocus sequence typing;
Mutation;
Heredity;
Diagnostic errors;
Diagnosis,differential;
C
- From:
Chinese Journal of Primary Medicine and Pharmacy
2022;29(9):1355-1358
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the key points of diagnosis and treatment of glycogen storage disease type Ⅱ(GSD Ⅱ).Methods:The clinical data of one child patient with GSD Ⅱ who received treatment in Hainan Children's Hospital on May 7, 2017 were retrospectively analyzed.Results:The child presented with atypical clinical manifestations, including pneumonia first, accompanied by muscle weakness and elevated muscle enzymes. Whole-genome sequencing showed that there were two heterozygous mutations in the acid alpha-glucosidase (GAA) gene, c.871C > T and c.1447G > A. The child was diagnosed with GSD Ⅱ.Conclusion:GSD Ⅱ has atypical clinical manifestations. It is easily misdiagnosed. Early whole-genome sequencing is helpful for the diagnosis of GSD Ⅱ.
