Analysis of effect of enzyme replacement therapy in 18 patients of Pompe disease
10.3760/cma.j.cn113694-20231010-00224
- VernacularTitle:18例蓬佩病患者酶替代治疗效果分析
- Author:
Ling LIAN
1
;
Jing LI
;
Xiaoli YAO
Author Information
1. 中山大学附属第一医院神经科 广东省重大神经疾病诊治研究重点实验室 国家临床重点专科和国家重点学科，广州510080
- Keywords:
Glycogen storage disease type Ⅱ;
Enzyme replacement therapy;
Infantile-onset;
Late-onset;
Follow-up studies
- From:
Chinese Journal of Neurology
2024;57(5):443-450
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the effect of enzyme replacement therapy (ERT) in 18 patients of Pompe disease.Methods:Clinical data, laboratory tests, acid alpha-glucosidase (GAA) enzyme activity, GAA gene, outcome and follow-up of ERT in 18 cases of infantile and late-onset Pompe disease admitted to the First Affiliated Hospital of Sun Yat-sen University from October 2020 to May 2023 were retrospectively collected and analyzed. Results:Among the 18 patients with Pompe disease, 9 are males, and 9 are females; 4 had infantile onset, 5 had late-onset in children, and 9 had late-onset in adults; age of onset ranged from 4 months to 43 years; ERT was received from 1 to 61 times, with only 1 adverse reaction during infusion. Among the 4 infantile onset patients after standardized ERT, 2 had stable motor and respiratory function, 1 had difficulty removing from vetilator, and 1 died. Most of the muscle strength of extremities of late-onset patients were difficult to reverse, and creatine kinase gradually decreased or remained stable, while subjective symptoms, exercise endurance, and respiratory function were significantly improved. ERT was most effective in the early stages and the disease remained stable for 1 to 2 years after treatment.Conclusions:ERT is safe and effective, which can help delay disease progression and improve the quality of life of patients. Early standard treatment is beneficial for both infantile- and late-onset patients.
