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。

关键词: 肌营养不良, 杜氏, 数据库

Abstract:

Background  China is one of the countries that have the largest number of patients suffering from Duchenne and Becker muscular dystrophy (DMD/BMD). Although the building of international DMD/BMD databases has laid a foundation for clinical drug development and clinical trials, it has not yet been carried out in China. In this study, a modified registry form of Remudy was applied to 229 DMD/BMD patients in order to establish a comprehensive database, which will lay the groundwork for international cooperation.  Methods  A total of 229 DMD/BMD patients diagnosed by genetic testing or muscle biopsy admitted in Children's Hospital of Fudan University (CHFU) during the period of August 2011 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, cardiac and respiratory function, steroid treatment and rehabilitation intervention. Results  There were 194 DMD and 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 development of clinical trials, prospective therapeutic research and better management of DMD/BMD patients and families in China.

Key words: Muscular dystrophy, Duchenne, Database