The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: Evidence from the United States cystic fibrosis foundation registry data
The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: Evidence from the United States cystic fibrosis foundation registry data
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DOI：
10.1016/j.jpeds.2005.08.014
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发表时间：
2005-09-01
影响因子：
5.1
通讯作者：
Farrell, PM
中科院分区：
文献类型：
--
作者：
Lai, HCJ;Cheng, Y;Farrell, PM
目的探讨囊性纤维化（CF）患者诊断时的年龄和病情对生存率的影响。研究设计根据诊断模式，将1986-2000年CF基金会登记的27,692例患者分为胎粪性肠梗阻（MI）、产前或新生儿筛查（SCREEN）、阳性家族史（FH）和除MI以外的症状（SYMPTOM）。MI组、SCREEN组和SYMPTOM组的患者根据初始症状进一步分为呼吸道症状和营养不良（RESP + NUTR）、RESP、NUTR、其他不常见症状（OTHER）和OTHER + RESP/NUTR。而SYMPTOM组为5%（P <0.001）。与SCREEN组患者相比，MI和SYMPTOM组患者生存期缩短的风险显著更大。与SCREEN组相比，有RESP + NUTR症状组患者生存期缩短的风险显著更大（P <0.05）。SYMPTOM组患者的生存诊断“早期”，也就是说，在1个月的年龄，并没有显着差异，在SCREEN组的患者，但明显优于SYMPTOM组的患者诊断超过1个月至10 years.Conclusions通过筛查早期诊断与更好的生存相比，延迟诊断，通过非MI症状超过1个月的年龄。
Objective To determine the impact of age and condition at the time of diagnosis on survival of patients with cystic fibrosis (CF).Study design By mode of diagnosis, 27,692 patients documented in the 1986-2000 CF Foundation Registry were segregated into meconium ileus (MI), prenatal or neonatal screening (SCREEN), positive family history only (FH), and symptoms other than MI (SYMPTOM). Patients in the MI, SCREEN, and SYMPTOM groups were further categorized by initial presenting symptoms into combined respiratory symptoms and malnutrition (RESP + NUTR), RESP, NUTR, other less common symptoms (OTHER), and OTHER + RESP/NUTR.Results Fifty-five percent of patients in the SCREEN group and 59% of patients in the MI group were diagnosed within age 1 month, as contrasted with 5% in patients in the SYMPTOM group (P < .001). Compared with patients in the SCREEN group, patients in the MI and SYMPTOM groups had significantly greater risks of shortened survival. Patients in die SYMPTOM group presenting with RESP + NUTR had significantly greater risk of shortened survival than the SCREEN group (P < .05). Survival of patients in the SYMPTOM group diagnosed "early," that is, within 1 month of age, did not differ from patients in the SCREEN group but was significantly better than patients in the SYMPTOM group diagnosed beyond age 1 month to 10 years.Conclusions Early diagnosis through screening is associated with better survival compared with delayed diagnosis through non-MI symptoms beyond the age of 1 month.