复旦大学附属儿科医院Duchenne型和Becker型肌营养不良症数据库的建立  

A comprehensive database of Duchenne and Becker muscular dystrophy patients in Children's Hospital of Fudan University

作　　者：李西华[1] 赵蕾[1] 胡超平[1] 施亿赟[1] 周水珍[1] 王艺[1] 

机构地区：[1]复旦大学附属儿科医院神经科,上海201102

出　　处：《中国现代神经疾病杂志》2015年第5期360-368,共9页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：上海市卫生局科研计划项目(项目编号:210263)~~

摘　　要：研究背景我国是Duchenne型和Becker型肌营养不良症患病率最高的国家之一,虽然国际间建立的Duchenne型和Becker型肌营养不良症数据库为临床药物研发和临床试验奠定了基础,但在我国尚未全面开展。本研究参照日本Remudy登记表的设计,建立复旦大学附属儿科医院Duchenne型和Becker型肌营养不良症数据库（CHFU）,为国际间合作提供了条件。方法纳入2011年8月-2013年12月在复旦大学附属儿科医院就诊并经基因检测或肌肉活检明确诊断的Duchenne型和Becker型肌营养不良症患儿229例,登记患儿性别、年龄、明确诊断年龄、地域分布、DMD基因突变类型、家族史、行走能力、心肺功能、激素治疗和康复干预等信息。结果 229例患儿中Duchenne型肌营养不良症194例、Becker型肌营养不良症35例;均为男性;〉3~4岁（16.59%,38/229）和〉7~8岁（14.85%,34/229）是明确诊断的高峰年龄。基因突变类型以缺失突变为主,在Duchenne型和Becker型肌营养不良症中分别占65.46%（127/194）和74.29%（26/35）;有家族史者占23.14%（53/229）;17.53%（34/194）的Duchenne型肌营养不良症患儿丧失行走能力,Becker型肌营养不良症患儿均保留行走能力;接受心脏功能和呼吸功能监测的患儿分别占46.29%（106/229）和17.90%（41/229）;接受泼尼松0.75 mg/（kg·d）治疗的Duchenne型肌营养不良症患儿占26.29%（51/194）。结论 CHFU数据库详细描述了Duchenne型和Becker型肌营养不良症患儿基因型、临床表现、诊断与治疗、康复情况,不仅为患者管理提供全面详细的信息,而且有助于促进我国临床试验的发展、推动前瞻性治疗性研究,以及更好地管理Duchenne型和Becker型肌营养不良症患儿及其家庭。BackgroundChina is one of the countries that have the largest number of patientssuffering from Duchenne and Becker muscular dystrophy（DMD/BMD）. Although the building ofinternational DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, ithas not yet been carried out in China. In this study, a modified registry form of Remudy was applied to229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork forinternational cooperation.MethodsA total of 229 DMD/BMD patients diagnosed by genetic testing ormuscle biopsy admitted in Children＇s Hospital of Fudan University（CHFU） during the period of August2011 to December 2013 were enrolled in this study. The data included sex, age, age at diagnosis,geographic distribution of patients, DMD gene mutation types, family history, walking capability, cardiacand respiratory function, steroid treatment and rehabilitation intervention.ResultsThere were 194 DMDand 35 BMD male patients who were diagnosed at the age of 0-18 years, and among them, most patients were diagnosed at the age of 3-4（16.59%, 38/229） and 7-8（14.85%, 34/229） years. Exon deletion was the most frequent genetic mutations for DMD/BMD [65.46%（127/194） and 74.29%（26/35）], respectively.Patients with a family history accounted for 23.14%（53/229）. The rate of DMD registrants losing walking capability was 17.53%（34/194）, and all the BMD registrants were able to walk. Cardiac functions were examined in 46.29%（106/229） DMD/BMD boys and respiratory functions were examined in 17.90%（41/229） DMD/BMD boys. The proportion of DMD patients receiving prednisone with dosage of 0.75 mg/（kg·d）was 26.29%（51/194）.Conclusions This database describes in detail the genotype, clinical manifestation,diagnosis and treatment and rehabilitation status of 229 DMD/BMD patients in China. The database not only provides comprehensive information for DMD/BMD patient management, but also will make significant contribution to the

关 键 词：肌营养不良 杜氏 数据库 

分 类 号：R746.2[医药卫生—神经病学与精神病学]