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拉丁美洲的先天性代谢缺陷:挑战与机遇。

Inborn errors of metabolism in Latin America: challenges and opportunities.

机构信息

WHO Collaborating Center for the Development of Medical Genetics Services in Latin America, Porto Alegre, RS, Brazil.

出版信息

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S315-20. doi: 10.1007/s10545-010-9112-8. Epub 2010 May 8.

Abstract

Latin America includes more than 40 countries and possessions, and its population of 570 million has an important representation of the three main human races. The area is experiencing an economic improvement, progressively bringing the inborn errors of metabolism (IEM) to a higher level among health priorities. Challenges to the progress of the IEM field include the huge disparities, the high prevalence of malnutrition and infections, the co-existence of very different models of public health services, the unstable socio-economic and political conditions, and the difficulties in integrating the countries. However, a rapidly changing social and economic environment is presenting many opportunities to the IEM field, like the improvements in infrastructure, the concentration of the population in urban areas, the continuous growth of neonatal screening, the use of filter paper samples, the availability of internet communication, and the interest in IEM by the new population medical genetics discipline. Analyzing this picture, several proposals are presented, such as the development of activities of provision of health services, education and research as an integrated package, the increase in training of human resources, the expansion of access to diagnostic tests, and the use the neonatal screening framework to expand the provision of services. In a continent with few IEM centers, there is a major need for such groups to work in collaboration, complementing each other's capabilities, providing training of human resources, and developing joint projects. The integration of these groups into a large transnational network of reference centers would be a major task for the coming years.

摘要

拉丁美洲包括 40 多个国家和属地,其 5.7 亿人口中有重要的三大人类种族代表。该地区正在经历经济改善,逐步将代谢性先天缺陷(IEM)提升为卫生重点之一。IEM 领域的进展面临诸多挑战,包括巨大的差异、营养不良和感染的高患病率、公共卫生服务非常不同模式的共存、不稳定的社会经济和政治条件以及国家间的融合困难。然而,快速变化的社会和经济环境为 IEM 领域带来了许多机会,如基础设施的改善、人口在城市地区的集中、新生儿筛查的持续增长、滤纸样本的使用、互联网通信的可用性以及新的人口医学遗传学学科对 IEM 的兴趣。分析这种情况,提出了一些建议,例如将提供卫生服务、教育和研究活动作为一个综合方案进行开发,增加人力资源培训,扩大诊断测试的获取,利用新生儿筛查框架扩大服务提供。在这个 IEM 中心较少的大陆,非常需要此类团体合作,相互补充能力,提供人力资源培训,并开展联合项目。这些团体整合到一个大型跨国参考中心网络将是未来几年的一项主要任务。

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