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首页> 外文期刊>Orphanet journal of rare diseases >A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012
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A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

机译：1978年至2012年间在中国生物医学期刊上报道的遗传性骨骼疾病的系统评价

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摘要

Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in “Nosology and Classification of genetic skeletal disorders (2010 version)” using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been reported. The most frequently reported disorders were Marfan syndrome, osteogenesis imperfecta, fibrous dysplasia, mucopolysaccharidosis, multiple cartilaginous exostoses, neurofibromatosis type 1 (NF1), osteopetrosis, achondroplasia, enchondromatosis (Ollier), and osteopoikilosis, accounting for 76.5% (12,312 cases) of the total cases. Five groups (group 8, 12, 14, 18, 21) defined by “Nosology and Classification of genetic skeletal disorders” have not been reported in the Chinese biomedical literature. Gene mutation testing was performed in only a minor portion of the 16,099 cases of GSDs (187 cases, 1.16%). In total, 37 genes for 41 different GSDs were reported in Chinese biomedical literature, including 43 novel mutations. This review revealed a significant imbalance in rare disease identification in terms of geographic regions and hospital levels, suggesting the need to create a national multi-level network to meet the specific challenge of care for rare diseases in China.
机译：关于中国遗传性骨骼疾病（GSD）的患病率，地理分布和突变谱的资料很少。这项研究使用1978年至2012年过去34年间发表的中国生物医学文献系统地综述了“遗传性骨骼疾病的分类和分类（2010版）”中定义的GSD。总共报告了16,099个GSD。报道最多的疾病是马凡氏综合症，成骨不全症，纤维异常增生，黏多糖贮积症，多发性软骨外生糖，神经纤维瘤病1型（NF1），骨质疏松症，软骨发育不良，内生软骨病（Ollier）和骨软骨病，占76.5％（12）。总数。在中国的生物医学文献中，尚未报道由“遗传性骨骼疾病的分类和分类”定义的五组（第8、12、14、18、21组）。在16099例GSD中只有一小部分进行了基因突变测试（187例，1.16％）。在中国生物医学文献中总共报告了41种不同GSD的37个基因，包括43个新突变。这项审查揭示了在地理区域和医院水平上罕见病识别方面的显着失衡，这表明需要建立一个全国多层次的网络来应对中国罕见病护理的具体挑战。

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