18例蓬佩病患者酶替代治疗效果分析  

Analysis of effect of enzyme replacement therapy in 18 patients of Pompe disease

作　　者：廉羚 利婧[1] 姚晓黎[1] Lian Ling;Li Jing;Yao Xiaoli(Department of Neurology,the First Affiliated Hospital,Sun Yat-sen University,Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases,National Key Clinical Department and Key Discipline of Neurology,Guangzhou 510080,China)

机构地区：[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

出　　处：《中华神经科杂志》2024年第5期443-450,共8页Chinese Journal of Neurology

基　　金：国家自然科学基金面上项目(82271448);广州市科技计划项目(2023A04J2198)。

摘　　要：目的分析蓬佩病患者酶替代治疗(ERT)的效果。方法回顾性收集、分析2020年10月至2023年5月就诊于中山大学附属第一医院的18例婴儿型及晚发型蓬佩病患者的临床、实验室检查、酸性α-葡萄糖苷酶(GAA)活性检测、GAA基因、ERT资料及随访情况。结果18例蓬佩病患者中男性9例,女性9例;婴儿型4例,儿童晚发型5例,成人晚发型9例;发病年龄4个月至43岁;接受ERT最少1次、最多61次,出现输注不良反应仅1次。经过规范ERT,4例婴儿型患儿中,2例运动及呼吸功能稳定,1例脱机困难,1例死亡。儿童晚发型及成人晚发型患者接受ERT后多数四肢肌力难以逆转,肌酸激酶逐渐下降或保持稳定,但主观症状、运动耐力、呼吸功能方面有明显改善。ERT在早期效果最为明显,治疗后1~2年内患者病情可保持稳定。结论ERT安全有效,有助于延缓疾病进展,改善患者生活质量,早期规范治疗无论对婴儿型还是晚发型患者均有益。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.

关 键 词：糖原贮积病Ⅱ型 酶替代治疗 婴儿型 晚发型 随访研究 

分 类 号：R741[医药卫生—神经病学与精神病学]