LONG-TERM PROGNOSIS OF PATIENTS WITH CYSTIC-FIBROSIS IN RELATION TO EARLY DETECTION BY NEONATAL SCREENING AND TREATMENT IN A CYSTIC-FIBROSIS CENTER
LONG-TERM PROGNOSIS OF PATIENTS WITH CYSTIC-FIBROSIS IN RELATION TO EARLY DETECTION BY NEONATAL SCREENING AND TREATMENT IN A CYSTIC-FIBROSIS CENTER
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DOI：
10.1136/thx.50.7.712
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发表时间：
1995-07-01
期刊：
影响因子：
10
通讯作者：
MEERMAN, GJT
中科院分区：
文献类型：
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作者：
DANKERTROELSE, JE;MEERMAN, GJT
背景-一项研究旨在评估通过新生儿筛查进行早期诊断是否可以改善囊性纤维化患者的长期预后，并评估诊断后立即开始的专家管理的影响。在格罗宁根的囊性纤维化中心与儿科医生密切合作，对三个出生队列的囊性纤维化患者进行了比较性临床随访荷兰东北部的医院。第一个出生队列（n=19）通过筛查检测，另外两个队列通过临床检测，一个队列（n=30）由筛查计划期间出生的患者组成，另一个队列（n=32）由筛查计划结束后6年内出生的患者组成。三个出生队列中的患者总数包括12年期间在该地区出生的所有囊性纤维化患者。累积生存率和肺功能，免疫球蛋白水平，生长模式随时间的变化被用作主要的结局measurements.Results -患者出生在筛选程序，但检测临床出现有减少的预期寿命相比，通过筛选检测到的患者。通过筛查发现的患者肺功能恶化较少（FEV年下降1.2%，% pred），免疫球蛋白水平增加较小，与同龄未筛查出生队列中FEV年下降3.25%，% pred相比，追赶性增长最小，免疫球蛋白升高导致观察期结束时水平升高，体重和身高的追赶增长。在囊性纤维化中心和那些没有提到一个专家中心治疗的患者之间的差异较小，但相似的，有利于治疗在囊性纤维化clinic.Conclusions -专家管理后立即开始囊性纤维化的早期诊断新生儿筛查结果的结果和临床过程中的重要有益影响的条件。对于大多数囊性纤维化患者来说，早期治疗可能对预后和长期预后至关重要。新生儿囊性纤维化筛查计划应更广泛地推广。
Background - A study was undertaken to evaluate whether an early diagnosis by neonatal screening may improve the long term prognosis of patients with cystic fibrosis and to assess the influence of expert management started immediately after the diagnosis.Methods - Comparative clinical follow up in three birth cohorts of patients with cystic fibrosis was performed at the Cystic Fibrosis centre in Groningen in close collaboration with paediatricians in general hospitals in the north-eastern part of the Netherlands. The first birth cohort (n=19) was detected by screening and the two other cohorts were detected clinically, one (n=30) consisting of patients born during the screening programme and the other (n=32) of patients born during the six years immediately after the screening programme ended. The total number of patients in the three birth cohorts included all patients with cystic fibrosis born in this area during a 12 year period. Cumulative survival rates and the variation with time of lung function, the levels of immunoglobulins, and growth patterns were used as main outcome measures.Results - Patients born during the screening programme but detected clinically appeared to have a reduced life expectancy compared with patients detected by screening. The patients detected by screening showed less deterioration in lung function (annual decrease 1.2% of FEV, % pred), a smaller increase in immunoglobulin levels, and minimal catch-up growth compared with an annual decrease of 3.25% of FEV, % pred in the non-screened birth cohort of the same age, a higher rise in immunoglobulins leading to increased levels at the end of the observation period, and catch-up growth for weight as well as height. Differences between patients treated in a cystic fibrosis centre and those not referred to a specialist centre were smaller but similar, in favour of treatment at a cystic fibrosis clinic.Conclusions - Expert management started immediately after an early diagnosis of cystic fibrosis by neonatal screening results in important beneficial effects on the outcome and clinical course of the condition. The institution of very early treatment may be critical for the outcome and long term prognosis for most patients with cystic fibrosis. Neonatal screening programmes for cystic fibrosis should be introduced more widely.