Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years
Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years
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DOI：
10.1093/aje/kwf064
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发表时间：
2002-09-01
影响因子：
5
通讯作者：
Valsecchi, MG
中科院分区：
文献类型：
--
作者：
Assael, BM;Castellani, C;Valsecchi, MG
这项基于人群的研究在韦内托和特伦蒂诺（意大利西北部，人口500万）进行。在这一领域，囊性纤维化的新生儿筛查始于1973年，自20世纪80年代初以来几乎已经普及。在这项研究中，该地区囊性纤维化的估计发病率为每年1/2，650活产。作者分析了1938-2000年出生并居住在该地区的593名患者的数据，这些患者由一个转诊中心随访。从出生到筛查后确诊的中位时间为32天（范围，0- 1，531）。对于那些在症状出现后才发现疾病的患者，诊断时的中位年龄总是小于1岁。中位生存年龄为37.7岁。长期生存期（至20-30岁）不受诊断模式（筛查或未筛查）、性别或未筛查患者诊断时的年龄（> 5岁）的显著影响。目前对连续30年的生存分析表明，在研究的最后几年，生存率的改善趋于消失。作者得出结论，区域新生儿筛查计划可以非常早期地识别囊性纤维化。他们不能得出结论，如果与婴儿早期症状诊断相比，新生儿筛查可以提高长期生存率。
This population-based study was conducted in Veneto and Trentino (northwestern Italy, population 5 million). In this area, neonatal screening for cystic fibrosis started in 1973 and has been virtually universal since the early 1980s. During this study, the estimated incidence of cystic fibrosis in this region was 1/2,650 livebirths per year. The authors analyzed data on 593 patients born in 1938-2000 and living in the region who were followed by a single referral center. Median time from birth to confirmation of diagnosis after screening was 32 days (range, 0-1,531). For patients whose disease was recognized after symptoms occurred, median age at diagnosis was always less than 1 year. Median survival age was 37.7 years. Long-term survival (to age 20-30 years) was not significantly influenced by mode of diagnosis (screened or unscreened), sex, or age at diagnosis for unscreened patients (5 years). Current survival analysis of three consecutive decades showed that improving survival tended to vanish in the last years of the study. The authors concluded that a regional neonatal screening program allows very early recognition of cystic fibrosis. They could not conclude that neonatal screening improves long-term survival if compared with diagnosis by symptoms in early infancy.