CLINICAL CHARACTERIZATION OF FAMILIAL SPONTANEOUS PNEUMOTHORAX

家族性自发性气胸的临床特征

• 批准号: 7606331
• 负责人: Christine Kim Garcia
• 金额: $ 0.02万
• 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/7606331
• 关键词: Affect; Attention; Bulla; Characteristics; Chest; Clinical; Computer Retrieval of Information on Scientific Projects Database; Dermatologic; Diffusion; Disease; Family; Family history of; Family member; Funding; Future; Genetic; Grant; Height; Individual; Institution; Laboratories; Leg; Length; Lesion; Localized; Lung; Marfan Syndrome; Measurement; Measures; Methods; Molecular; Musculoskeletal; National Health and Nutrition Examination Survey; Numbers; Peripheral; Phenotype; Physiological; Plethysmography; Pneumothorax; Pulmonary function tests; Research; Research Personnel; Resources; Respiratory Mechanics; Risk; Scanning; Smoking History; Source; Spirometry; System; Testing; United States National Institutes of Health; Upper arm; Weight; X-Ray Computed Tomography; alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; base

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. It has been estimated that approximately 10% of individuals who have a spontaneous pneumothorax have a positive family history of the disorder. In recent years it has become evident that in some families the pneumothorax is a manifestation of a known monogenic disease, such as alpha-1-antitrypsin deficiency or Marfan syndrome. In other families, no known disease can explain the pneumothoraces. We propose that familial spontaneous pneumothorax is a disease distinct from other monogenic disorders. To test this hypothesis, we have collected a number of families with this disorder; affected individuals who do not have any of the laboratory or clinical features of alpha-1-antitrypsin deficiency, Marfan syndrome, or any other known disorder associated with spontaneous pneumothoraces. In the largest family we have ruled out two genetic loci associated with spontaneous pneumothoraces. We propose a number of tests for affected individuals and those at-risk for developing the disease that will provide detailed clinical characterization of the features of this disease. First, we will perform detailed physical exams with special attention toward the musculoskeletal, dermatologic, and pulmonary systems. Given the known association between spontaneous pneumothorax and an asthenic body habitus, anthropometric measurements of height, arm span, weight, sitting height, upper arm and upper leg lengths will be taken and compared with NHANES III norms. Alpha-1-antitrypsin quantitative measurements will be determined. Pulmonary function tests including spirometry, body plethysmography, and diffusion capacity will measure physiologic respiratory mechanics. Computed tomography (CT) scans of the chest will be taken in an effort to visualize the peripheral, subpleural blebs or holes in the lung that are the hallmark of this disorder. These proposed characteristics may identify individuals who have an intermediate phenotype, related family members who have normal spirometry and radiographic evidence of localized emphysematous-lesions of the lung not explained by a significant smoking history. The proposed detailed clinical characterization of this disorder will be essential for determining the molecular basis of this disorder by using genetic methods in the future.

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 据估计，大约10%的自发性气胸患者有这种疾病的阳性家族史。近年来，很明显，在一些家庭中，气胸是一种已知的单基因疾病的表现，如α-1抗胰蛋白酶缺乏症或马凡综合征。在其他家庭中，没有已知的疾病可以解释气胸。我们认为家族性自发性气胸是一种有别于其他单基因疾病的疾病。为了验证这一假设，我们收集了一些患有这种疾病的家庭；受影响的个人没有任何实验室或临床特征的α-1-抗胰蛋白酶缺乏症、马凡综合征或任何其他与自发性气胸相关的已知疾病。在最大的家族中，我们排除了与自发性气胸相关的两个基因位点。我们建议对受影响的个人和那些有患病风险的人进行一些测试，这些测试将提供这种疾病特征的详细临床特征。首先，我们将进行详细的体检，特别关注肌肉骨骼、皮肤病和肺部系统。鉴于自发性气胸与虚弱的身体习惯之间的已知关联，将对身高、臂展、体重、坐高、上臂和大腿长度进行人体测量，并与NHANES III标准进行比较。将测定α-1-抗胰蛋白酶的定量测定。肺功能测试包括肺活量、身体体积描记和弥散能力，将测量生理性呼吸力学。将对胸部进行计算机断层扫描，以努力显示这种疾病的特征--肺内的外周、胸膜下气泡或孔洞。这些建议的特征可以识别具有中间表型的个体，具有正常肺活量测定和局限性肺气肿的放射证据的亲属家庭成员-没有显著吸烟史解释的肺部病变。拟议的这种疾病的详细临床特征对于未来使用遗传学方法确定这种疾病的分子基础将是至关重要的。