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，往往延误诊断 并转介到提供全面护理的中心。 因此，在 在过去的30年里， 建立了早期检测这种疾病的可靠方法。 一 一个相对较新的进展，似乎有希望涉及测量 干新生儿血斑上的免疫反应性胰蛋白酶原（IRT） 在对其他先天性缺陷进行大规模筛查时收集， 代谢;它已被证明，这种测试可以连接到DNA 用于检测CF突变的分析。 虽然一般认为 有益的新生儿筛查计划负担着三个方面的负担， 不良影响的种类：错误（假阳性和假阴性）， 误解/误解和污名化。 而且 在对照研究中尚未确定早期诊断将 通常对CF患者具有成本效益和医学益处， 特别是对于慢性肺病， 决定了个体患者的预后。 因为 对症状前CF患者实施积极治疗， 有争议的是，重要的是要进行对照研究， 在美国进行大规模筛查之前的好处和风险 States. 因此，我们正在研究CF新生儿筛查， 评估潜在的肺部和营养益处，以及 医疗和心理社会风险。 我们的设计涉及随机 筛查了威斯康星州一半的新生儿， 新生儿干血斑胰蛋白酶原放射免疫测定法 DNA分析。 我们正在比较确诊为CF的患者 在婴儿早期，通过常规诊断， 医疗保健提供系统。 目前正在特别注意 营养状况和肺部疾病的比较评价 这两个群体，并评估潜在的心理社会问题， 筛选的人群。 正在检验的假设包括： (1)大多数CF患者可在新生儿时通过 IRT/DNA两层筛选试验;（2）早期诊断的过程 （筛查和汗液测试）不会有长期的危害 心理社会影响;（3）在婴儿早期诊断将防止 营养不良和生长迟缓;（4）那些被诊断为CF的人， 新生儿的肺部疾病比年龄匹配的患者少， 未经筛选的人群。

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.