婴儿型糖原贮积症Ⅱ型酶替代治疗三例并文献复习  

Enzyme Replacement Therapy for Infantile Glycogen Storage Disease Type Ⅱ in Three Cases and Literature Review

作　　者：徐玲玲[1] 巴宏军[2] 李素萍[1] 梁玉坚[1] 黄雪琼[1] 张丽丹[1] 裴瑜馨[1] 黄慧敏[1] 张成[3] 唐雯[1] XU Lingling;BA Hongjun;LI Suping;LIANG Yujian;HUANG Xueqiong;ZHANG Lidan;PEI Yuxin;HUANG Huimin;ZHANG Cheng;TANG Wen(Department of PICU,the First Affiliated Hospital,Sun Yat-Sen University,Guangzhou 510080,China;Department of Cardiovascular Pediatrics,the First Affiliated Hospital,Sun Yat-Sen University,Guangzhou 510080,China;Department of Neurology,the First Affiliated Hospital,Sun Yat-Sen University,Guangzhou 510080,China)

机构地区：[1]中山大学附属第一医院PICU,广东省广州市510080 [2]中山大学附属第一医院心血管儿科,广东省广州市510080 [3]中山大学附属第一医院神经内科,广东省广州市510080

出　　处：《中国全科医学》2019年第27期3377-3382,共6页Chinese General Practice

基　　金：2010年国家临床重点专科建设项目(2011-872);广东省科技计划基金(2013B021800276);广州市科技计划基金(201510010148)

摘　　要：背景婴儿型糖原贮积症Ⅱ型(GSDⅡ)患儿临床表现危重,未予重组人酸性α葡糖苷酶替代治疗时,常会在1岁前死于心力衰竭和或呼吸衰竭,目前国内缺少对婴儿型GSDⅡ酶替代治疗的疗效评估。目的总结婴儿型GSDⅡ使用重组α葡萄糖苷酶治疗的效果,为临床治疗提供参考。方法收集2016年3月—2017年12月在中山大学附属第一医院住院确诊的婴儿型GSDⅡ患儿3例,均有心肌肥厚和/或肌无力表现,外周血酸性α-葡糖苷酶(GAA)活性低于正常。患儿均接受重组人类GAA替代治疗,20mg/kg,1次/2周。观测患儿生命体征、呼吸情况、肌力、丙氨酸氨基转氨酶(ALT)、天冬氨酸氨基转氨酶(AST)、乳酸脱氢酶(LDH)、肌酸激酶(CK)、胸部X线检查情况。结果3例患儿开始治疗时症状均以四肢肌无力并呼吸困难为主要表现,1例成功撤离呼吸机,2例放弃治疗后死亡。3例患儿经重组人类GAA替代治疗肌力均明显好转,ALT下降2例,升高1例;AST下降2例,升高1例;LDH下降1例,升高2例;CK下降2例,升高1例;3例患儿治疗前的胸部X线检查示心影大;治疗后患儿1、2胸部X线检查示心影缩小,患儿3胸部X线检查示心影变化不明显。治疗后心脏彩超示室间隔厚度下降3例;左心室射血分数提升3例。结论 结合文献复习,重组人GAA替代治疗婴儿型GSDⅡ安全有效,可明显改善患儿心功能、肌力及呼吸功能。Background Children with infantile glycogen storage disease typeⅡ(GSDⅡ)have critical clinical manifestations.Without recombinant human acid alpha-glucosidase replacement therapy,they often die of heart failure or respiratory failure before the age of 1 year.At present,there is a lack of evaluation on the efficacy of enzyme replacement therapy(ERT)for GSDⅡin China.GSDⅡalways is the most severe form and is characterized by cardiomyopathy,respiratory distress.And they generally results in death within the first year of life without ERT.Objective To summarize ERT for infantile GSDⅡ,so as to provide reference for clinical treatment.Methods Clinical data of three patients with infantile-onset GSDⅡwas collected at the First Affiliated Hospital,Sun Yat-sen University from March 2016 to December 2017.Myocardial hypertrophy and myasthenia were found in all patients,and GAA activity in peripheral blood was lower than normal.Recombinant human acid alpha-glucosidase enzyme therapy(20 mg/kg,1 time/14 days)was used in all patients.The vital signs,respiratory status,muscle strength,alanine aminotransferase(ALT),aspartate aminotransferase(AST),lactate dehydrogenase(LDH),creatine kinase(CK)and chest X-ray examination were observed and performed.Results The main symptoms of three cases were limb weakness and dyspnea at the beginning of treatment.One case successfully weaned from the ventilator and two cases died after giving up treatment.After recombinant human GAA replacement therapy,muscle strength of three children improved significantly,ALT decreased in 2 cases and increased in 1 case;AST decreased in two cases and increased in one case;LDH decreased in one case and increased in two cases;CK decreased in two cases and increased in one case;chest X-ray examination showed large cardiac shadow in three children before treatment;after treatment,chest X-ray examination showed reduced cardiac shadow of children No.1 and No.2,and no significant change in children No.3.After treatment,the interventricular septum thickness d

关 键 词：糖原贮积病Ⅱ型 婴儿 酶替代疗法 溶酶体贮积病 重组人酸性α-葡糖苷酶 神经肌肉疾病 

分 类 号：R589.1[医药卫生—内分泌]