Fabry病合并心脏受累的诊治进展  

Advancement in Diagnosis and Treatment of Fabry Disease with Heart Involvement

作　　者：卢伊婷 范鹏 孟旭[1] 张迪[1] 张莹[1] 周宪梁[1] LU Yi-ting;FAN Peng;MENG Xu;ZHANG Di;ZHANG Ying;ZHOU Xian-liang(Department of Cardiovascular department,Fuowai Hospital,National Center for Cardiovascular Diseases,Chinese Academy ofMedical Sciences and Peking Union Medical College,Beijing 100037,China)

机构地区：[1]中国医学科学院北京协和医学院国家心血管病中心阜外医院心内科,北京市100037

出　　处：《中国分子心脏病学杂志》2021年第5期4253-4257,共5页Molecular Cardiology of China

基　　金：中国医学科学院临床与转化医学研究基金(2019XK320057);中国医学科学院医学与健康科技创新工程经费资助(2016-I2M-1-002);国家重点研发计划(2016YFC1300100)。

摘　　要：Fabry病是由编码溶酶体水解酶α-半乳糖苷酶A的GLA基因突变引起的X染色体连锁隐性模式遗传的溶酶体贮积症。绝大多数Fabry病患者合并心脏受累,出现包括心肌肥厚、传导障碍、心律失常、瓣膜病变、心力衰竭等复杂并发症,其中心脏性猝死是Fabry病患者死亡的首要原因。生物标志物水平测定及基因检测是目前诊断Fabry病的主要手段,必要时可辅以组织活检;心电图及影像学检查对于判断Fabry病是否合并心脏受累至关重要。酶替代补充治疗和口服药物分子伴侣是目前治疗Fabry病的一线疗法,其疗效与治疗开始时机密切相关。Fabry disease is an X-chromosome-linked recessive pattern lysosomal storage disorder caused by mutations in the GLA gene encoding lysosomal hydrolaseα-galactosidase A.A majority of Fabry patients are involved with cardiac complications,including left ventricular cardiac hypertrophy,conduction disorder,arrhythmia,valvular disease,heart failure and so on,among which sudden cardiac death is the leading cause of death.Biomarker levels and genetic testing are currently the main methods for the diagnosis of Fabry disease.If necessary,tissue biopsy is of great help for confirming the disease.Electrocardiogram and imaging examination are crucial to detect whether there is cardiac involvement.Enzyme replacement therapy and oral drug molecular chaperone are the current first-line therapies,whose efficacy are closely related to the timing of therapeutic initiation.

关 键 词：FABRY病 GLA基因 Α-半乳糖苷酶A 心肌肥厚 

分 类 号：R596[医药卫生—内科学]