即使采用现代疗法,新生儿囊性纤维化筛查依然大有裨益

作     者：Sims E.J. Mc Cormick J. Mehta G. Mehta A. 贺文龙 

作者机构：Division of Maternal and Child Health Sciences Ninewells Hospital and Medical School University of Dundee Dundee DD1 9SY United Kingdom 

出 版 物：《世界核心医学期刊文摘（儿科学分册）》 (Dkgest of the World Latest Medical Information)

年 卷 期：2006年第2卷第A3期

页      面：59-60页

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

主　　题：囊性纤维化 胎粪性肠梗阻 用力呼气量 营养状况 临床诊断 纯合子 横断面研究 年龄组 试验设计 肺容 

摘      要：Objectives: To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only marginal benefit gained by CF newborn screening (NBS). Study design: We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; ***) to compare clinical outcomes in infants who underwent NBS and control subjects who were clinically diagnosed (CD). With Mann-Whitney rank tests, 184 patients who underwent NBS aged 1 to 9 years in 2002 (excluding meconium ileus) were compared with matched patients who were CD in 3-year age groups (950 control subjects). Results: Patients as old as 6 years who underwent NBS had significantly greater median height z-scores, less severe Northern chest radiography scores, better Shwachman-Kulczycki scores, and lower rates of chronic Pseudomonas aeruginosa infection. No difference was found for weight z-score or % predicted forced expiratory value in 1 second or forced volume capacity. Nutritional benefit was demonstrated in patients who underwent NBS and were homozygous for the Δ F508 mutation. Conclusions: NBS segregates with better outcomes in patients as old as 6 years compared with age and gene-matched control subjects who are CD. This cross-sec-tional study shows that infants who undergo screening derive nutritional benefit in improved median height and reduced morbidity.