CHARACTERIZATION OF FAMILIAL IDIOPATHIC PULMONARY FIBROSIS

家族性特发性肺纤维化的特征

• 批准号: 7606332
• 负责人: Christine Kim Garcia
• 金额: $ 0.04万
• 依托单位: UT SOUTHWESTERN MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7606332
• 关键词: Accounting; Adult; Affect; Blood; Bronchoalveolar Lavage Fluid; Bronchoscopy; Characteristics; Chest; Clinical; Collection; Complement; Computer Retrieval of Information on Scientific Projects Database; Diffusion; Disease; Exercise; Exhibits; Family; Family member; Fibrosis; Frequencies; Funding; Genetic; Grant; Hamman-Rich syndrome; Individual; Inflammation; Inheritance Patterns; Institution; Measurement; Methods; Molecular; Oxygen; Participant; Patients; Penetrance; Physiological; Plethysmography; Pneumonia; Pulmonary function tests; Rare Diseases; Reporting; Research; Research Design; Research Personnel; Resolution; Resources; Risk; Screening procedure; Source; Spirometry; Techniques; Testing; United States National Institutes of Health; Vertical Disease Transmission; X-Ray Computed Tomography; base; disease phenotype; male; novel; transmission process

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Idiopathic pulmonary fibrosis (IPF) is a well defined clinical entity that has characteristic clinical, radiographic, and physiologic characteristics. It occurs at a frequency of approximately 13-20 per 100,000. It is the most deadly of the idiopathic pneumonias with no known cure and few treatments. The familial form of the disease is even more rare, accounting for 0.5-3.7% of all the cases of IPF. The molecular basis of the familial form of the disease is unknown. The largest reported families with this disease exhibit vertical transmission, male to male transmission, and variable penetrance. We hypothesize that familial idiopathic pulmonary fibrosis is a rare disease displaying an autosomal dominant pattern of inheritance with variable penetrance. To test this hypothesis we have established a collection of families with familial idiopathic pulmonary fibrosis (IPF) through patient contact and referrals. This proposal seeks to characterize affected and at-risk family members by clinical methods. We propose using the GCRC resources to facilitate characterization of subjects. Each participant will undergo a physical exam, submit blood for routine analyses, have pulmonary function testing, a high-resolution CT (HRCT) scan, and undergo bronchoscopy to evaluate bronchoalveolar lavage fluid for markers of inflammation and fibrosis. The pulmonary function testing will include spirometry, body plethysmography, diffusion capacity measurement, and oxygen desaturation with exercise. HRCT scans of the chest will be obtained to evaluate for the characteristic findings of IPF. This is a novel type of study using our unique resources of families with familial IPF. If the pattern of inheritance is indeed autosomal dominant with reduced penetrance, then this type of screening of adult at-risk individuals may identify some with early findings of the disease or those with an intermediate phenotype of the disease. These studies will directly complement our attempts to identify the genetic basis of this disease by classical linkage techniques.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 特发性肺纤维化（IPF）是一种定义明确的临床疾病，具有独特的临床、放射学和生理学特征。 其发生频率约为每 100,000 人 13-20 人。 它是最致命的特发性肺炎，目前尚无已知的治愈方法，治疗方法也很少。 这种疾病的家族性更为罕见，占所有 IPF 病例的 0.5-3.7%。该疾病家族形式的分子基础尚不清楚。据报道，患有这种疾病的最大家族表现出垂直传播、男性间传播和不同的外显率。我们假设家族性特发性肺纤维化是一种罕见疾病，表现出具有可变外显率的常染色体显性遗传模式。 为了检验这一假设，我们通过患者接触和转诊建立了一系列患有家族性特发性肺纤维化 (IPF) 的家庭。 该提案旨在通过临床方法来描述受影响和高危家庭成员的特征。 我们建议使用 GCRC 资源来促进受试者的特征描述。 每位参与者都将接受体检、提交血液进行常规分析、肺功能测试、高分辨率 CT (HRCT) 扫描，并接受支气管镜检查以评估支气管肺泡灌洗液中的炎症和纤维化标志物。 肺功能测试包括肺活量测定、身体体积描记法、扩散能力测量和运动时的氧饱和度测量。 将进行胸部 HRCT 扫描以评估 IPF 的特征性表现。 这是一种新颖的研究类型，利用了我们独特的家族性 IPF 家庭资源。 如果遗传模式确实是外显率降低的常染色体显性遗传，那么对成年高危个体的这种类型的筛查可能会识别出一些患有该疾病的早期发现或具有该疾病的中间表型的人。 这些研究将直接补充我们通过经典连锁技术确定这种疾病的遗传基础的尝试。