RARE GENETIC DISORDERS OF THE AIRWAYS

罕见的气道遗传性疾病

• 批准号: 7716868
• 负责人: Michael R Knowles
• 金额: $ 0.86万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-02 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7716868
• 关键词: Classification; Clinical; Computer Retrieval of Information on Scientific Projects Database; Data; Diagnosis; Diagnostic; Disease; Evaluation; Foundations; Funding; Genes; Grant; Hereditary Disease; Institution; Nitric Oxide; Nose; Patients; Phytohemagglutinins; Prevalence; Registries; Research; Research Personnel; Resources; Sensitivity and Specificity; Severities; Source; United States National Institutes of Health; Variant; age related; disease-causing mutation

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. Primary Objecttives: 1) Utilize a systematic approach to the diagnostic evaluation of patients in order to distinguish between PCD, variant CF, and PHA. 2) Identify disease-causing mutation in genes. 3) Define the sensitivity and specificity of nasal nitric oxide (NO) for the diagnosis of PCD. Secondary Objective: 1) Compare prevalence and age-related severity of key clinical features among these 3 disorders (PCD, variant CF, and PHA), as well as comparison to "classic" CF, using comparable data in the CF Foundation-supported CF Registry.

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