Effect observation and literature review of enzyme replacement therapy in late-onset Pompe disease
10.3760/cma.j.cn113694-20210412-00255
- VernacularTitle:晚发型蓬佩病的酶治疗随访及相关文献复习
- Author:
Yanhua ZENG
1
;
Zhaoying WU
;
Hongfang LI
;
Huimin ZOU
;
Yun CHEN
;
Yanlei HAO
Author Information
1. 济宁医学院临床医学院272000
- Keywords:
Glycogen storage disease type Ⅱ;
Enzyme replacement therapy;
Recombinant human acid alpha-glucosidase
- From:
Chinese Journal of Neurology
2021;54(7):677-685
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the efficacy and safety of enzyme therapy in late-onset Pompe disease (LOPD) patients, so as to provide reference for the treatment and prognosis of LOPD.Methods:The effect of α-glucosidase (GAA) on a patient diagnosed with LOPD in the Affiliated Hospital of Jining Medical University was observed and analyzed. Besides, literature related to enzyme therapy in LOPD patients were searched in PubMed, Web of Science, Medline databases. Twenty-one studies containing clinical data from 910 LOPD patients related to enzyme therapy were finally included for analysis.Results:The patient developed muscle weakness since he was 16 years old. The GAA activity in peripheral blood was 0. Electromyography suggested myogenic lesions in both lower extremities. Compound heterozygous mutations of GAA gene were found by next- generation sequencing. Muscle biopsy revealed characteristic vacuolar changes. After eight years of diagnosis, the patient was given enzyme therapy for 18.5 months, 20 times in total. The symptoms of muscle weakness were slightly improved in the early stages of treatment without obvious adverse reactions. Most of the 910 LOPD patients were stabilized or had improved muscular and (or) respiratory function following treatment with GAA.Conclusion:GAA treatment is effective and well tolerated. In patients with advanced severe LOPD, enzyme replacement therapy remains effective even years after onset.
