与同一中心的历史队列相比，通过新生儿筛查诊断的囊性纤维化患者的生存率得到提高。

Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre.

机构信息

Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, Australia.

出版信息

Arch Dis Child. 2011 Dec;96(12):1118-23. doi: 10.1136/archdischild-2011-300449. Epub 2011 Oct 12.

DOI:10.1136/archdischild-2011-300449

PMID:21994242

Abstract

BACKGROUND

Newborn screening (NBS) for cystic fibrosis (CF) is associated with improved early nutritional outcomes and improved spirometry in children. The aim of this study was to determine whether early diagnosis and treatment of CF with NBS in New South Wales in 1981 led to better clinical outcomes and survival into early adulthood.

METHODS

Retrospective observational study comprising two original cohorts born in the 3 years before ('non-screened cohort', n=57) and after ('screened'; n=60) the introduction of NBS. Patient records were assessed at transfer from paediatric to adult care by age 19 years and survival was documented to age 25 years.

RESULTS

Non-screened patients (n=38) when compared with screened patients (n=41) had a higher rate and lower age of Pseudomonas aeruginosa acquisition at age 18 years (p ≤ 0.01). Height, weight and body mass index (BMI) z scores (all p<0.01) and forced expiratory volume in 1 s (FEV(1))% were better in the screened group (n=41) (difference: 16.7 ± 6.4%; p=0.01) compared to non-screened (n=38) subjects on transfer to adult care. Each 1% increase in FEV(1)% was associated with a 3% (95% CI 1% to 5%; p=0.001) decrease in risk of death and each 1.0 kg/m(2) increase in BMI contributed to a 44% (95% CI 31% to 55%; p<0.001) decrease in risk of death. This accumulated in a significant survival difference at age 25 years (25 vs 13 deaths or lung transplants; p=0.01).

CONCLUSION

NBS for CF leads to better lung function, nutritional status and improved survival in screened patients in early adulthood.

摘要

背景

新生儿筛查（NBS）可改善囊性纤维化（CF）患儿的早期营养结局和肺功能。本研究旨在明确 1981 年新南威尔士州开展 NBS 是否改善了 CF 的早期诊断和治疗，从而提高了成年早期的临床结局和生存率。

方法

本研究是一项回顾性观察性研究，包含了在 NBS 实施前（非筛查组，n=57）和之后（筛查组，n=60）出生的 3 年内的 2 个原始队列。通过在 19 岁时从儿科转至成人护理时评估患者记录，并记录至 25 岁时的生存情况。

结果

与筛查组患者（n=41）相比，非筛查组患者（n=38）在 18 岁时铜绿假单胞菌的获得率更高、年龄更小（p ≤ 0.01）。在转至成人护理时，筛查组（n=41）的身高、体重和体重指数（BMI）z 评分（均 p＜0.01）和 1 秒用力呼气量（FEV1）%均优于非筛查组（n=38）（差异：16.7±6.4%；p=0.01）。FEV1%每增加 1%，死亡风险降低 3%（95%CI 1%~~5%；p=0.001），BMI 每增加 1.0kg/m2，死亡风险降低 44%（95%CI 31%~~55%；p＜0.001）。这种情况在 25 岁时导致了显著的生存差异（25 岁死亡或肺移植患者 25 例，13 例；p=0.01）。