BACKGROUND Pompe disease has a broad disease spectrum,including infantile-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD)forms.It is a type of glycogen storage disorder belonging to autosomal recessive gen...BACKGROUND Pompe disease has a broad disease spectrum,including infantile-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD)forms.It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease,for an estimated incidence of 1/40000 among the neonatal population.In severe cases,the natural course is characterized by death due to cardiopulmonary failure in the first year after birth.However,the clinical outcomes have improved since the emergence of enzyme replacement therapy(ERT)was widely used.CASE SUMMARY The reported female case in China was an atypical IOPD,which demonstrates an unusual presentation of glycogen accumulation syndrome typeⅡwithout obvious skeletal muscle involvement,and reviewed physical examination,biochemical examinations,chest radiograph,and acidα-glucosidase(GAA)mutation analysis.After 4-mo specific ERT,the case received 12-mo follow-up.Moreover,the patient has obtained a very good prognosis under ERT.CONCLUSION For the atypical IOPD patients,early diagnosis and treatment may contribute to good prognosis.展开更多
Late-onset Pompe’s disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therap...Late-onset Pompe’s disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therapy require detailed kn owledge of the kind and severity of symptoms and the natural course of the disea se in the patient population.A detailed questionnaire covering the patients’med ical history and current situation was developed and information was gathered fr om 54 Dutch patients. The mean age of the participants was 48.6 ±15.6 years.The first complaints started at a mean age of 28.1±14.3 years and were mostly rela ted to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood . Twenty-eight percent of the patients waited > 5 years for the final diagnosis after the first visit to a physician for disease related complaints. At the tim e of questionnaire completion,48%of the study population used a wheelchair and 37%used artificial ventilation.Movements such as rising from an armchair,taking stairs or getting upright after bending over were difficult or impossible for m ore than two-thirds of the respondents.The age at onset, the rate of disease pr ogression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indica ted being troubled by fatigue and 46%by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease s everity in a large group of Dutch patients. We conclude that early manifestation s in childhood require proper attention to prevent unnecessary delay of the diag nosis. The follow-up of patients with late-onset Pompe’s disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.展开更多
After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions...After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.展开更多
Pompe disease is an autosomal recessive inherited glycogen storage disease, usually respiratory muscles, cardiac muscle and skeletal muscles are affected in childhood and mortality is inevitable but has a slower progr...Pompe disease is an autosomal recessive inherited glycogen storage disease, usually respiratory muscles, cardiac muscle and skeletal muscles are affected in childhood and mortality is inevitable but has a slower progression in the adult. The patient was a 35-year-old male patient who was scheduled to undergo ureterorenoscopy due to right ureteral stone. He was diagnosed with pompe disease after detection of myopathy on EMG due to muscle weakness in the legs and hips. He was started on myozyme vials once every 15 days. Spinal anesthesia with 3 ml 0.5% hyperbaric bupivacaine was performed and adequate sensorial and motor block was achieves at T10 level. The surgery was completed with no complications and he was discharged two days later. The selection of appropriate anesthetic technique and a careful perioperative and postoperative monitoring are of utmost importance due to progressive muscle weakness, hypotonia, respiratory failure and cardiomyopathy in pompe disease.展开更多
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...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。展开更多
基金Supported by Tianjin Municipal Health Commission,China,No. ZC20060
文摘BACKGROUND Pompe disease has a broad disease spectrum,including infantile-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD)forms.It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease,for an estimated incidence of 1/40000 among the neonatal population.In severe cases,the natural course is characterized by death due to cardiopulmonary failure in the first year after birth.However,the clinical outcomes have improved since the emergence of enzyme replacement therapy(ERT)was widely used.CASE SUMMARY The reported female case in China was an atypical IOPD,which demonstrates an unusual presentation of glycogen accumulation syndrome typeⅡwithout obvious skeletal muscle involvement,and reviewed physical examination,biochemical examinations,chest radiograph,and acidα-glucosidase(GAA)mutation analysis.After 4-mo specific ERT,the case received 12-mo follow-up.Moreover,the patient has obtained a very good prognosis under ERT.CONCLUSION For the atypical IOPD patients,early diagnosis and treatment may contribute to good prognosis.
文摘Late-onset Pompe’s disease (acid maltase deficiency, glycogen storage diseas e type II) is a slowly progressive myopathy caused by deficiency of acid α-glu cosidase. Current developments in enzyme replacement therapy require detailed kn owledge of the kind and severity of symptoms and the natural course of the disea se in the patient population.A detailed questionnaire covering the patients’med ical history and current situation was developed and information was gathered fr om 54 Dutch patients. The mean age of the participants was 48.6 ±15.6 years.The first complaints started at a mean age of 28.1±14.3 years and were mostly rela ted to mobility problems and limb-girdle weakness. Fifty-eight percent of the adult patients indicated the presence of mild muscular symptoms during childhood . Twenty-eight percent of the patients waited > 5 years for the final diagnosis after the first visit to a physician for disease related complaints. At the tim e of questionnaire completion,48%of the study population used a wheelchair and 37%used artificial ventilation.Movements such as rising from an armchair,taking stairs or getting upright after bending over were difficult or impossible for m ore than two-thirds of the respondents.The age at onset, the rate of disease pr ogression and the sequence of respiratory and skeletal muscle involvement varied substantially between patients. Seventy-six percent of the participants indica ted being troubled by fatigue and 46%by pain. This survey has mapped the age at onset, presenting symptoms, heterogeneity in progression and range of disease s everity in a large group of Dutch patients. We conclude that early manifestation s in childhood require proper attention to prevent unnecessary delay of the diag nosis. The follow-up of patients with late-onset Pompe’s disease should focus on respiratory and limb-girdle muscle function, the capacity to perform daily activities, and the presentation of fatigue and pain.
文摘After Enzyme Replacement Therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), survival of Infantile Pompe Disease (IPD) patients through the first 18 months of age has been documented and acquisitions of motor development are an important outcome, but description of its course is scarce. Objective: To describe the motor development in an IPD patient and its correlation with clinical conditions during the first 18 months on ERT with rhGAA. Methods: By longitudinal observational study of an IPD case at early stage. Clinical and biochemical characteristics were obtained from patient records. Echocardiogram assessed cardiac indexes and the urinary biomarker—glucose tetrasaccharide (Glc4)—was obtained by HPLC/UV, following sample derivatization with butyl 4-amino benzoate and analysis on a C18 stationary phase column. Motor skills were evaluated with Alberta Infant of Motor Scale (AIMS) and motor delay was considered as motor percentile (p) below 10. Descriptive statistical analysis was carried out and t-test was used to calculate the differences among means, with significance level defined as p value < 0.05. Results: After ERT beginning amelioration of the cardiomyopathy with reduced left ventricle mass index (LVMI) from the 2nd month onwards was observed, but above the upper normal limit for healthy children and CRIM-positive IPD patients. Although GAA antibodies level remained above the recommended titers and fluctuating elevation of Glc4 quantified, motor development analysis showed an ascendant curve expected for age within achievement of independent ambulation. Motor delay after pneumonia and maintenance of hypotonia were noted. Variation of Glc4 appeared long after a transitory intercurrence. Conclusion: In an IPD case, motor development can have normal evolution despite hypotonia. Motor analysis seems to be sensitive to follow-up clinical intercurrences. To elucidate the interaction among prognostic factors and outcomes, further clinical studies need to be conducted.
文摘Pompe disease is an autosomal recessive inherited glycogen storage disease, usually respiratory muscles, cardiac muscle and skeletal muscles are affected in childhood and mortality is inevitable but has a slower progression in the adult. The patient was a 35-year-old male patient who was scheduled to undergo ureterorenoscopy due to right ureteral stone. He was diagnosed with pompe disease after detection of myopathy on EMG due to muscle weakness in the legs and hips. He was started on myozyme vials once every 15 days. Spinal anesthesia with 3 ml 0.5% hyperbaric bupivacaine was performed and adequate sensorial and motor block was achieves at T10 level. The surgery was completed with no complications and he was discharged two days later. The selection of appropriate anesthetic technique and a careful perioperative and postoperative monitoring are of utmost importance due to progressive muscle weakness, hypotonia, respiratory failure and cardiomyopathy in pompe disease.
文摘目的分析晚发型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。
