Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

囊性纤维化新生儿筛查对肺部的益处

• 批准号: 6876578
• 负责人: PHILIP M FARRELL
• 金额: $ 79.44万
• 依托单位: UNIVERSITY OF WISCONSIN-MADISON
• 依托单位国家: 美国
• 财政年份: 1985
• 资助国家: 美国
• 起止时间: 1985-08-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6876578
• 关键词: Pseudomonas aeruginosa; adolescence (12-20); child (0-11); cognition; cost effectiveness; cystic fibrosis; diagnosis procedure safety; diagnosis quality /standard; disease /disorder proneness /risk; early diagnosis; health care cost /financing; human subject; iatrogenic disease; inborn metabolism disorder diagnosis; longitudinal human study; malnutrition; mass screening; newborn human (0-6 weeks); nutrition related tag; outcomes research; patient oriented research; psychometrics; quality of life; questionnaires; respiratory disorder epidemiology; respiratory infections; tomography

Although cystic fibrosis (CF) is the most common, life-threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence initiation of treatment. Advances of the past two decades have made CF screening feasible using routinely collected neonatal blood specimens and determining trypsinogen levels and CF mutations by DNA analyses. Our overall goal is to address the following hypothesis: Early diagnosis of CF through neonatal screening will be medically beneficial without major risks. "Medically beneficial" refers to better nutritional and/or pulmonary status, whereas "risks" include laboratory errors, potential iatrogenic medical sequelae, miscommunication or misunderstanding and adverse psychosocial consequences. Specific aims include assessment of the benefits, risks, costs, quality of life, and cognitive function associated with CF neonatal screening and delineation of the characteristic epidemiologic features of CF. A comprehensive, randomized clinical trial emphasizing early diagnosis as the key variable has been underway since 1985. Nutritional status has been assessed by anthropometric and biochemical methods, and the results have demonstrated significant benefits in the screened group. Answering the important questions about pulmonary outcome will require five more years of follow-up evaluation focused on lung function measures and quantitative chest radiology, including high resolution computerized tomography. If the questions underlying this study are answered favorably, it is likely that neonatal screening using a combination of trypsinogen and DNA tests will become the routine method for identifying new cases of CF and that diagnosis in early infancy will allow prevention of many clinically-significant problems such as malnutrition. If CF neonatal screening is implemented nationally, however, several epidemiologic gaps must be closed, and this will require more precise data on the course of this disease and determination of risk factors for pulmonary infections with Pseudomonas aeruginosa. This project will generate that important information, as well as essential data on the quality of life and cognitive function of children with CF who experience early or delayed diagnosis. We will also clarify the risks of screening and delineate for the first time the costs of diagnosis and treatment of CF throughout childhood as well as the cost-effectiveness of screening.

尽管囊性纤维化（CF）是最常见的，威胁生命的 白人人口的常染色体隐性遗传疾病，经常有 诊断延迟，因此开始治疗。过去两个的进步 数十年使CF筛选使用常规收集的新生儿可行 血液标本并通过DNA确定胰蛋白酶原水平和CF突变 分析。我们的总体目标是解决以下假设：早期 通过新生儿筛查诊断CF将在医学上有益于 主要风险。 “在医学上有益”是指更好的营养和/或 肺状况，而“风险”包括实验室错误，潜力 医学医学后遗症，误解或误解和不利 社会心理后果。具体目的包括评估收益， 与CF相关的风险，成本，生活质量和认知功能 新生儿筛查和特征流行病学特征的描述 cf。一项全面的，随机的临床试验，强调早期诊断 由于关键变量自1985年以来一直在进行中。营养状况一直是 通过人体测量和生化方法评估，结果具有 在筛选组中显示出显着的好处。回答 关于肺癌的重要问题将需要五年 关注肺功能测量和定量胸部的后续评估 放射学，包括高分辨率计算机断层扫描。如果问题 这项研究的基础是有利的，很可能是新生儿 使用胰蛋白酶原和DNA测试的组合筛选将成为 常规方法来识别新的CF病例和早期诊断 婴儿期将允许预防许多临床上重要的问题，例如 营养不良。但是，如果在全国范围内实施CF新生儿筛查 必须封闭几个流行病学差距，这将需要更精确 有关这种疾病过程的数据以及确定风险因素 铜绿假单胞菌的肺部感染。这个项目将产生 这些重要信息以及有关生活质量的基本数据 CF儿童的认知功能 诊断。我们还将阐明筛选和描述的风险 首次在整个儿童期诊断和治疗CF的成本为 以及筛选的成本效益。