摘要
目的分析晚发型Pompe病(PD)累及心脏的临床特点、辅助检查及治疗预后。方法回顾分析了一例在湖北省妇幼保健院就诊,以心脏受累为首发表现,特征性心电图改变提示诊断,通过基因检测及酶活性检测确诊的晚发型PD孕妇的临床资料。检索中华医学期刊全文数据库、维普中文期刊、中国知网、万方数据库等中文数据库及PubMed、Embase、Web of Science数据库等英文数据库建库至2024年2月收录的文献,总结和分析国内外报道的关于晚发型PD合并心脏受累的临床特点、辅助检查及治疗随访。对数据资料采用描述性分析。结果(1)病例资料:孕妇孕37周+3,否认心肌病史。孕检心电图检查提示短PR间期、左心室高电压及ST-T改变,符合PD心电图特征性改变,入院超声心动图检查提示左心室肥厚,经酸性α-葡萄糖苷酶(GAA)酶活性检测、GAA基因检测确诊PD。心功能不全症状较轻,运动及呼吸功能未见损害。因先兆临产入院后行剖宫产术,术后心率正常,无特殊不适,娩出新生儿经GAA基因检测阴性。患者每半年评估肌力,心肺功能等,目前病情稳定。(2)文献回顾:检索并纳入17篇文献,31例累及心脏的晚发型PD病例进行分析,男性19例,女性12例,起病年龄的中位值及范围为4(1~57)岁,确诊年龄的中位值及范围为12(1~68)岁。以心脏受累为首发表现患者13例(41.9%),多数同时伴有肌无力或呼吸困难,孤立性心脏受累患者3例。17例患者记录心电图结果,异常患者13例,超声心动图检查提示心脏扩大或心肌肥厚患者26例,4例患者射血分数<55%,17例患者外周血GAA酶活性低于正常范围,25例患者进行基因检测发现28种GAA基因突变,7例患者使用重组人α-葡萄糖苷酶(rhGAA)进行酶替代疗法(ERT),随访期病情改善,8例患者未记录结局,其余16例患者中有8例死亡,6例需依赖呼吸机或丧失活动能力。结论晚发型PD可以累及多个系统,累及心脏虽然少见,但不积极治疗预后较差,ERT可以改善结局。
ObjectiveTo analyze the clinical characteristics,auxiliary examinations,and treatment outcomes of late onset Pompe disease(PD)involving the heart.MethodsA retrospective analysis was conducted on the clinical data of a pregnant woman with late-onset PD who presented with heart involvement as the initial presentation in the Maternal and Child Health Hospital of Hubei Province.The diagnosis of PD was suggested by characteristic ECG changes and confirmed through genetic testing and enzyme activity testing.Moreover,the clinical characteristics,auxiliary examinations,and treatment outcomes of patients with late onset PD with cardiac involvement reported at home and abroad were summarized and analyzed based on the literature retrieved from Chinese databases such as the full-text database of Chinese Medical Journal,VIP Chinese Journals,China National Knowledge Infrastructure(CNKI),Wanfang database,and English databases such as PubMed,Embase,and Web of Science,from the inception to February 2024.Descriptive analysis was used in this study.Results(1)Case data:a pregnant woman at 37 weeks plus 3 days,previously healthy,denied history of myocardial disease.Her ECG showed short PR interval,left ventricular high voltage and ST-T changes,which were consistent with the characteristic changes of PD.Upon admission,echocardiography revealed left ventricular hypertrophy.PD was confirmed through acid alpha-glucosidase(GAA)enzyme activity and GAA gene testing.The symptoms of cardiac insufficiency are mild,and there is no damage to exercise and respiratory function.After admission due to threatened labor,a cesarean section was performed,and the postoperative heart rate was normal without any special discomfort.The newborn was delivered and tested negative for GAA gene.The patient is evaluated for muscle strength,cardiopulmonary function,etc.every six months,and the condition is currently stable.(2)Literature review:a total of 17 articles were retrieved and 31 cases of late onset PD involving the heart were included in the analysis.There are 19 males and 12 females,with the median and range of age at onset of 4(1-57)years and at diagnosis of 12(1-68)years.There were 13 cases(41.9%)with cardiac involvement as the initial presentation,often accompanied by muscle weakness or breathing difficulties,and 3 cases with isolated cardiac involvement.Among 17 patients with recorded ECG results,a total of 13 cases showed ECG abnormalities.There were 26 cases showing cardiac enlargement or myocardial hypertrophy on echocardiography,4 cases with ejection fraction<55%.Notably,17 patients with peripheral blood GAA enzyme activity below the normal range and 25 cases with 28 types of GAA gene mutations were found,of which 7 patients using recombinant humans alpha-glucosidase(rhGAA)enzyme replacement therapy(ERT)improved the condition during the follow-up period,with 8 patients having no recorded outcomes,half of the remaining 16 patients died,and 6 patients relying on ventilation or losing mobility.ConclusionsLate onset PD can affect multiple systems.Although it is rare to involve the heart,the prognosis is poor without active treatment for such patients.ERT can improve the outcome of patients with late-onset PD.
作者
余婷婷
李花莲
魏欣
宋婕萍
闻捷
郑菲
Yu Tingting;Li Hualian;Wei Xin;Song Jieping;Wen Jie;Zheng Fei(Diagnostic Department of Electrocardiogram and Electroencephalogram,Maternal and Child Health Hospital of Hubei Province,Wuhan 430070,China;Department of Eugenics and Genetics,Maternal and Child Health Hospital of Hubei Province,Wuhan 430070,China)
关键词
晚发型Pompe病
肥厚型心肌病
糖原贮积症Ⅱ型
酸性α-葡萄糖苷酶
心电图
Pompe disease,late onset
Hypertrophic cardiomyopathy
Glycogen storage syndrome type II
Acid alpha-glucosidase
Electrocardiogram
