PULMONARY BENEFITS OF CYSTIC FIBROSIS NEONATAL SCREENING

尽管囊性纤维化(CF)是最常见的致命疾病 高加索人的遗传性疾病，往往会延误诊断 并转诊到提供全面护理的中心。因此，在过去的时间里 在过去的三十年里，人们对 建立一种可靠的早期发现该病的方法。一个 相对较新的进展似乎很有希望，涉及测量 免疫反应性胰酶原(IRT)在新生儿干燥血斑中的检测 在大规模筛查其他先天错误时收集的 新陈代谢；已经证明这项测试可以与DNA联系在一起 用于检测CF突变的分析。尽管人们普遍认为 有益的，新生儿筛查计划已经背负着三个负担 不良影响的种类：错误(假阳性和假阴性)， 误解/误解和污名化。此外，它还 还没有在一项对照研究中证实早期诊断将 通常对CF患者具有成本效益和医学上的益处， 尤其是在慢性肺部疾病方面，通常 决定着单个病人的预后。因为它的功效 对无症状的CF患者实施积极治疗是 有争议的是，对两者进行对照研究是很重要的 在美国实行大规模筛查之前的好处和风险 各州。因此，我们正在调查CF新生儿筛查，以 评估潜在的肺和营养益处，以及 作为医疗和心理社会风险。我们的设计涉及到随机 对威斯康星州一半的新生儿进行筛查 新生儿干血斑偶对胰酶原的放射免疫测定 去做DNA分析。我们正在比较被确认为患有CF的患者 在婴儿期早期，通过常规的 卫生保健提供系统。目前正在特别关注以下问题 营养状况与肺部疾病的对比评价 两组并评估潜在的心理社会问题。 接受筛查的人口。正在测试的假设包括以下几点： (1)大多数CF患者可通过以下方法诊断为新生儿 IRT/DNA两层筛查试验；(2)早期诊断过程 (筛查和出汗测试)不会有长期的危害 心理社会影响；(3)婴儿期早期诊断可预防 营养不良和生长迟缓；以及(4)被诊断为 新生儿的肺部疾病将比年龄匹配的患者更少 未经筛查的人口。

Despite the fact that cystic fibrosis (CF) is the most common lethal hereditary disorder of Caucasians, there are often delays in diagnosis and referral to centers that provide comprehensive care. Thus, over the past three decades, there has been a great deal of interest in establishing a reliable method for early detection of this disease. A relatively recent advance that appears promising involves measurement of immunoreactive trypsinogen (IRT) on dried neonatal blood spots collected at the time of mass screening for other inborn errors of metabolism; it has been shown that this test can be linked to DNA analysis for detecting CF mutations. Although generally considered beneficial, newborn screening programs have been burdened with three kinds of adverse effects: errors (false-positives and false-negatives), miscommunication/misunderstanding, and stigmatization. Furthermore, it has not been established in a controlled study that early diagnosis will be generally cost-effective and medically beneficial for CF patients, particularly in regard to the chronic lung disease which usually determines an individual patient's prognosis. Because the efficacy of implementing aggressive treatment for presymptomatic CF patients is controversial, it is important to perform a controlled study of both benefits and risks before mass screening is instituted in the United States. Accordingly, we are investigating CF neonatal screening to evaluate both the potential pulmonary and nutritional benefits, as well as the medical and psychosocial risks. Our design involves randomly screening half the newborn population of Wisconsin using the radioimmunoassay for trypsinogen on dried neonatal blood spots coupled to DNA analysis. We are comparing patients identified as having CF during early infancy with children diagnosed through the conventional health care delivery system. Special attention is being given to comparative evaluation of nutritional status and pulmonary disease in the two groups and to assessment of potential psychosocial problems in the screened population. Hypotheses being tested include the following: (1) the majority of CF patients can be diagnosed as neonates by the IRT/DNA two-tiered screening test; (2) the process of early diagnosis (screening and sweat testing) will not have long-term harmful psychosocial impacts; (3) diagnosis in early infancy will prevent malnutrition and growth retardation; and (4) those diagnosed with CF as neonates will have less pulmonary disease than age-matched patients in the unscreened population.