Cystic Fibrosis Centre, Ospedale San Carlo, Potenza, Italy.
J Cyst Fibros. 2011 Mar;10(2):71-85. doi: 10.1016/j.jcf.2010.12.005. Epub 2011 Jan 22.
This is the third article related to a review of the literature based on data from national cystic fibrosis (CF) patient registries up to June 2008 and covering a total of 115 published studies. It focuses on several topics: CF incidence, genotype/phenotype correlation, microbiology, pregnancy/paternity, clinical complications, lung transplantation, and others. Seventy seven papers meeting the inclusion criteria were found to be related to the topics listed above. Another seven studies, already evaluated in previous papers of this series, were recalled for specific topics. Incidence is described by several studies, results being quite different from one country to another and quite inhomogeneous among regions within the same country. Studies on genetics address the genotype/phenotype correlation and look for a predictive value of CFTR mutations in terms of clinical outcome, with controversial results. Papers on microbiology describe the clinical relevance of different pathogens and their role in the progress of CF lung disease. A few articles give information on the features of CF women undergoing a pregnancy and try to identify the ones associated with a better outcome. Studies on clinical complications discuss prevalence and the role of haemoptysis, pneumothorax, CF related diabetes, ABPA and cancer. Papers on lung transplantation focus on models able to improve the selection criteria for transplantation candidates and the factors linked to post transplantation survival. Finally, several studies deal with a number of interesting topics related to CF epidemiology: clinical trial methodology, quality of care comparison among countries and centers, relationship between diagnosis and age/gender, and evaluation of pharmacological therapy. On the whole, CF Registries have already contributed to important advances in the knowledge of the natural history of CF, establishing the foundations for future improvement in CF research and care.
这是第三篇与基于截至 2008 年 6 月全国囊性纤维化（CF）患者登记数据的文献综述相关的文章，共涵盖了 115 篇已发表的研究。本文重点介绍了以下几个主题：CF 的发病率、基因型/表型相关性、微生物学、妊娠/父权、临床并发症、肺移植和其他方面。共发现符合纳入标准的 77 篇论文与上述主题相关。另外 7 项研究，已在本系列前几篇论文中进行了评估，被召回用于特定主题。有几项研究描述了发病率，结果因国家而异，在同一国家的不同地区也存在很大差异。关于遗传学的研究探讨了基因型/表型相关性，并寻求 CFTR 突变对临床结果的预测价值，但结果存在争议。关于微生物学的论文描述了不同病原体的临床相关性及其在 CF 肺部疾病进展中的作用。少数文章提供了关于接受妊娠的 CF 女性的特征信息，并试图确定与更好结局相关的特征。关于临床并发症的研究讨论了患病率以及咯血、气胸、CF 相关糖尿病、ABPA 和癌症的作用。关于肺移植的论文则侧重于能够改善移植候选者选择标准以及与移植后生存相关的因素的模型。最后，还有一些研究涉及与 CF 流行病学相关的多个有趣主题：临床试验方法学、各国和各中心之间的护理质量比较、诊断与年龄/性别之间的关系以及药物治疗评估。总的来说，CF 登记处已经为 CF 自然史的重要知识进步做出了贡献，为未来 CF 研究和护理的改进奠定了基础。
