酶替代疗法改善婴儿型庞贝病患者的心功能
Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.
作者信息
Niyazov Dmitriy, Lara Diego A
机构信息
Department of Pediatrics, Ochsner Hospital for Children, Ochsner Clinic Foundation, New Orleans, LA.
The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA.
出版信息
Ochsner J. 2018 Winter;18(4):413-416. doi: 10.31486/toj.18.0049.
BACKGROUND
Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism involving abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype, and enzyme replacement therapy with alglucosidase alfa (Lumizyme) improves medical and functional outcomes in patients with infantile-onset Pompe disease.
CASE REPORT
We report the case of a patient with infantile-onset Pompe disease who presented with severe hypertrophic cardiomyopathy, systolic and diastolic cardiac dysfunction, and hypotonia. She experienced significant improvement in cardiac systolic function while receiving enzyme replacement therapy.
CONCLUSION
Typically, patients with infantile-onset Pompe disease and severe hypertrophic cardiomyopathy are not as responsive to enzyme replacement therapy as patients with mild or no hypertrophic cardiomyopathy. We demonstrated the efficacy of enzyme replacement therapy in a patient with severe hypertrophic cardiomyopathy.
背景
庞贝病是一种溶酶体贮积症，由涉及异常糖原贮积的先天性代谢错误引起。婴儿型庞贝病是最严重的表型，用阿糖苷酶α（Lumizyme）进行酶替代疗法可改善婴儿型庞贝病患者的医学和功能结局。
病例报告
我们报告了一例婴儿型庞贝病患者，该患者表现为严重肥厚型心肌病、收缩期和舒张期心脏功能障碍以及肌张力减退。在接受酶替代疗法时，她的心脏收缩功能有显著改善。
结论
通常，婴儿型庞贝病和严重肥厚型心肌病患者对酶替代疗法的反应不如轻度或无肥厚型心肌病患者。我们证明了酶替代疗法对一名严重肥厚型心肌病患者的疗效。
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