背景:人类最大基因中的各种突变,肌营养不良蛋白,导致从轻度到重度肌营养不良相关肌营养不良。Duchenne(DMD)和Becker(BMD)肌营养不良位于主要影响骨骼肌的严重末端。这些纯粹的遗传性疾病中的进行性肌肉无力鼓励具有遗传咨询阳性病史的家庭预防复发。这需要疾病的准确患病率。这里,我们提供了系统评价和荟萃分析,以确定DMD和BMD在全球的患病率.
方法:当前的系统评价和荟萃分析是使用Cochrane七步程序进行的。在确定研究问题以及纳入和排除标准后,MagIran,SID,ScienceDirect,WOS,ProQuest,Medline(PubMed),Embase,科克伦,Scopus,和GoogleScholar数据库进行了搜索,以使用定义的关键字和使用AND和OR的所有可能的关键字组合来查找相关研究,到2021年没有时间限制。使用I2检验计算研究的异质性,并使用Begg和Mazumdar秩相关检验调查发表偏倚。使用综合Meta分析软件(版本2)对数据进行统计分析。
结果:共纳入25篇文章,涉及901,598,055人。全球肌营养不良患病率估计为每100,000人中3.6人(每100,000人中95CI2.8-4.5),美国人的患病率最高,为5.1/10万人(95CI3.4-7.8/10万人)。根据亚组分析,DMD和BMD的患病率估计为每100,000人中有4.8人(每100,000人中有95CI3.6-6.3人)和每100,000人中有1.6人(每100,000人中有95CI1.1-2.4人),分别。
结论:了解遗传性疾病的确切患病率有助于更准确地预测在家庭中预防其发生的可能性。DMD和BMD的全球患病率很高,这表明迫切需要对有阳性病史的家庭给予更多的产前筛查和遗传咨询。
BACKGROUND: A variety of mutations in the largest human gene, dystrophin, cause a spectrum from mild to severe dystrophin-associated muscular dystrophies. Duchenne (DMD) and
Becker (BMD) muscular dystrophies are located at the severe end of the spectrum that primarily affects skeletal muscle. Progressive muscle weakness in these purely genetic disorders encourages families with a positive history for genetic counseling to prevent a recurrence, which requires an accurate prevalence of the disorder. Here, we provide a systematic review and meta-analysis to determine the prevalence of DMD and BMD worldwide.
METHODS: The current systematic review and meta-analysis was carried out using Cochrane seven-step procedure. After determining the research question and inclusion and exclusion criteria, the MagIran, SID, ScienceDirect, WoS, ProQuest, Medline (PubMed), Embase, Cochrane, Scopus, and Google Scholar databases were searched to find relevant studies using defined keywords and all possible keyword combinations using the AND and OR, with no time limit until 2021. The heterogeneity of studies was calculated using the I2 test, and the publication bias was investigated using the Begg and Mazumdar rank correlation test. Statistical analysis of data was performed using Comprehensive Meta-Analysis software (version 2).
RESULTS: A total of 25 articles involving 901,598,055 people were included. The global prevalence of muscular dystrophy was estimated at 3.6 per 100,000 people (95 CI 2.8-4.5 per 100,000 people), the largest prevalence in the Americans at 5.1 per 100,000 people (95 CI 3.4-7.8 per 100,000 people). According to the subgroup analysis, the prevalence of DMD and BMD was estimated at 4.8 per 100,000 people (95 CI 3.6-6.3 per 100,000 people) and 1.6 per 100,000 people (95 CI 1.1-2.4 per 100,000 people), respectively.
CONCLUSIONS: Knowing the precise prevalence of a genetic disorder helps to more accurately predict the likelihood of preventing its occurrence in families. The global prevalence of DMD and BMD was very high, indicating the urgent need for more attention to prenatal screening and genetic counseling for families with a positive history.