RARE GENETIC DISORDERS OF THE AIRWAYS

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。 主要目的：1)利用系统的方法对患者进行诊断评估，以区分PCD、变异型CF和PHA。2)确定致病基因的突变。3)明确鼻腔一氧化氮(NO)诊断PCD的敏感性和特异性。 次要目标：1)比较这三种疾病(PCD、变异型CF和PHA)的主要临床特征的患病率和年龄相关的严重程度，以及与“经典”CF的比较，使用CF基金会支持的CF注册表中的可比数据。

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.