Congenital muscular dystrophies in China
Congenital muscular dystrophies in China
复制标题
中国先天性肌营养不良症
DOI：
10.1111/cge.13560
复制
发表时间：
2019-09-01
影响因子：
3.5
通讯作者：
Xiong, Hui
中科院分区：
文献类型：
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作者：
Ge, Lin;Zhang, Cheng;Xiong, Hui
先天性肌营养不良症（CMD）是临床和遗传异质性条件。我们启动了一项全国性研究，以确定中国人群中CMD的频率，并评估中国CMD的诊断和疾病管理状况。从29个一级行政区划（省、市、自治区和特别行政区）的34家三级学术医院的数据库中选择病例，并审查病历以确认诊断。该研究包括409名患者，在同意进行基因检测的患者中（n = 340），其中286人发现了突变。最常见的形式是LAMA 2相关CMD（36.4%），其次是COL 6相关CMD（23.2%）和α-肌营养不良聚糖病（21.0%）。与LMNA和SEPN 1突变相关的CMD形式较不常见（分别为12.5%和2.4%）。我们还记录了CMD的诊断能力和疾病管理的显着差异，这在欠发达地区的研究中心相对落后。我们首次提供了中国人群中CMD的全面流行病学信息。据我们所知，这是迄今为止同类研究中最大的样本量，突出了CMD在中国的患病率。
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in the Chinese population and assess the status of diagnosis and disease management for CMD in China. Cases were chosen from databases in 34 tertiary academic hospitals from 29 first‐level administrative divisions (provinces, municipalities, autonomous regions, and special administrative regions), and medical records were reviewed to confirm the diagnoses. The study included 409 patients, of those patients who consented to genetic testing (n = 340), mutations were identified in 286 of them. The most common forms identified were LAMA2‐related CMD (36.4%), followed by COL6‐related CMD (23.2%) and α‐dystroglycanopathy (21.0%). The forms of CMD related to mutations in LMNA and SEPN1 were less frequent (12.5% and 2.4%, respectively). We also recorded a significant difference in the diagnostic capabilities and disease management of CMD, with this being relatively backward in research centers from less developed regions. We provide, for the first time, comprehensive epidemiologic information of CMD in a large cohort of Chinese people. To our knowledge, this is the largest sample size of its kind so far highlighting the prevalence of CMD in China.