RARE GENETIC DISORDERS OF THE AIRWAYS: DEVELOPMENT OF NOVEL SCREENING

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。 北卡罗来纳大学教堂山分校的研究人员建立了一个由地理上分散的临床研究地点组成的联盟，目的是研究罕见的呼吸道疾病，这些疾病涉及从呼吸道的粘液纤毛清除功能受损。除了北卡罗来纳大学，教堂山，其他网站是华盛顿大学，圣路易斯，科罗拉多大学，丹佛，和华盛顿大学，西雅图。这些地点的研究人员将在一组集中的患者中合作进行诊断、遗传和其他研究，包括那些可能被诊断为原发性睫状体运动障碍(PCD)、变异型囊性纤维化(CF)和假性低醛固酮增多症(PHA)的患者，这些疾病反映了呼吸道主机防御的遗传缺陷，通常会导致呼吸道的慢性感染。由于缺乏可靠的诊断测试，患有这些传导气管和鼻窦疾病的患者往往会延误或误诊。他们临床疾病的次优管理也是一个问题，因为这些疾病的原因没有明确定义，治疗方案通常不是由循证医学驱动的。

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. A consortium of geographically-dispersed clinical research sites has been established by investigators at the University of North Carolina, Chapel Hill, for the purpose of studying rare diseases of the airways, which involve impairment of mucociliary clearance from the airways. In addition to UNC, Chapel Hill, other sites are Washington University, St Louis; University of Colorado, Denver; and University of Washington, Seattle. Investigators at these sites will collaborate in diagnostic, genetic, and other studies in a focused group of patients, including those with the possible diagnosis of primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF), and pseudo- hypoaldosteronism (PHA), reflecting genetic defects in airway host-defense, and typically result in chronic infection of the airways. Patients with these disorders of the conducting airways and sinuses often have delayed or misdiagnoses because of lack of reliable diagnostic tests. Sub-optimal management of their clinical disease is also an issue because the cause of these disorders is not well-defined, and treatment regimens are typically not driven by evidence-based medicine.