LONGITUDINAL STUDY OF PRIMARY CILIARY DYSKINESIA (PCD STUDY)

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 我们已经建立了一个由4个地理上分散的临床研究中心组成的联盟，旨在研究气道的罕见疾病。 本纵向研究方案的目的是确定患有这些疾病之一（原发性纤毛感觉障碍（PCD））的参与者中表型特征的年龄相关患病率和肺部疾病关键特征的进展。 在PCD中，纤毛的异常结构和功能导致分泌物的清除受损，从而导致气道、鼻窦和中耳中的阻塞和慢性复发性感染。 PCD肺部疾病的临床过程尚未明确定义。 这项纵向研究旨在使用肺量测定法确定5至18岁参与者的PCD肺功能进展率。 我们还将系统地跟踪其他结局，包括气道病原体（通过呼吸道培养评估）、发病年龄和气道损伤进展以及支气管扩张（通过胸部高分辨率断层扫描（HRCT）评估）。

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. We have established a consortium of 4 geographically-dispersed clinical sites that are designed to study rare diseases of the airways. The purpose of this longitudinal study protocol is to define age-related prevalence of phenotypic characteristics and the progression of key features of lung diseases in participants with one of these disorders, Primary Ciliary Dyskinsesia (PCD). In PCD, the abnormal structure and function of cilia results in impaired clearance of secretions and consequent obstruction and chronic recurrent infections in the airways, sinuses and middle ears. The clinical course of PCD lung disease is not well defined. This longitudinal study is designed to define a rate of progression of PCD lung function in participants between 5 and 18 year of age using spirometry. We will also systematically track other outcomes, including pathogens of the airways(assessed by respiratory cultures), age at onset and progression of airway damage and bronchiectasis (assessed by high-resolution tomography (HRCT) of the chest.