Farrell Philip M, White Terry B, Derichs Nico, Castellani Carlo, Rosenstein Beryl J
Departments of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI.
Cystic Fibrosis Foundation, Bethesda, MD.
J Pediatr. 2017 Feb;181S:S16-S26. doi: 10.1016/j.jpeds.2016.09.067.
Because cystic fibrosis (CF) can be difficult to diagnose, and because information about the genetic complexities and pathologic basis of the disease has grown so rapidly over the decades, several consensus conferences have been held by the US CF Foundation, and a variety of other efforts to improve diagnostic practices have been organized by the European CF Society. Despite these efforts, the application of diagnostic criteria has been variable and caused confusion.
To improve diagnosis and achieve standardization in terms and definitions worldwide, the CF Foundation in 2015 convened a committee of 32 experts in the diagnosis of CF from 9 countries. As part of the process, all previous consensus-seeking exercises sponsored by the CF Foundation, along with the important efforts of the European CF Society, were comprehensively and critically reviewed. The goal was to better understand why consensus conferences and their publications have not led to the desired results.
Lessons learned from previous diagnosis consensus processes and products were identified. It was decided that participation in developing a consensus was generally not inclusive enough for global impact. It was also found that many efforts to address sweat test issues were valuable but did not always improve clinical practices as CF diagnostic testing evolved. It also became clear from this review that premature applications of potential diagnostic tests such as nasal potential difference and intestinal current measurement should be avoided until validation and standardization occur. Finally, we have learned that due to the significant and growing number of cases that are challenging to diagnose, an associated continuing medical education program is both desirable and necessary.
It is necessary but not sufficient to organize and publish CF diagnosis consensus processes. Follow-up implementation efforts and monitoring practices seem essential.
由于囊性纤维化（CF）可能难以诊断，且数十年来关于该疾病遗传复杂性和病理基础的信息增长迅速，美国囊性纤维化基金会召开了几次共识会议，欧洲囊性纤维化协会也组织了各种其他努力来改进诊断方法。尽管做出了这些努力，但诊断标准的应用一直存在差异并造成了混乱。
为了改善诊断并在全球范围内实现术语和定义的标准化，囊性纤维化基金会于2015年召集了一个由来自9个国家的32名囊性纤维化诊断专家组成的委员会。在此过程中，对囊性纤维化基金会此前发起的所有寻求共识的活动以及欧洲囊性纤维化协会的重要工作进行了全面且批判性的审查。目的是更好地理解为何共识会议及其出版物未能产生预期效果。
总结了从先前诊断共识过程和成果中吸取的经验教训。得出的结论是，参与制定共识的过程通常对全球影响而言包容性不足。还发现，许多解决汗液测试问题的努力很有价值，但随着囊性纤维化诊断测试的发展，这些努力并不总能改善临床实践。此次审查还明确表明，在鼻电位差和肠电流测量等潜在诊断测试得到验证和标准化之前，应避免过早应用。最后，我们了解到，由于难以诊断的病例数量众多且不断增加，相关的继续医学教育项目既必要又迫切。
组织并发布囊性纤维化诊断共识过程是必要的，但并不充分。后续的实施工作和监测措施似乎至关重要。
