LONGITUDINAL STUDY OF PRIMARY CILIARY DYSKINESIA: SUBJECTS 5-18 YEARS OF AGE

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。子项目和 研究者（PI）可能从另一个NIH来源获得主要资金， 因此可以在其他CRISP条目中表示。列出的机构是 研究中心，而研究中心不一定是研究者所在的机构。 PI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。 在本方案中，将研究其中一种疾病原发性纤毛运动障碍（PCD）。 在原发性纤毛运动障碍（PCD）中，纤毛的异常结构和功能导致分泌物的清除受损以及随后的气道、鼻窦和中耳中的阻塞和慢性复发性感染。 临床表现包括慢性/复发性支气管炎， 肺炎、慢性/复发性鼻窦炎和慢性中耳炎。 慢性气道感染最终导致气道结构性损伤，称为支气管扩张和肺功能丧失。 虽然PCD气道疾病的发病似乎可能发生在儿童早期，如囊性纤维化（CF）的报道，但PCD肺病的临床过程并不明确，特定微生物病原体出现的时间过程或气道疾病的发病年龄和进展速度也不明确 和支气管扩张。 这项纵向研究旨在确定5-18岁受试者的PCD肺功能进展率，追踪感染气道的病原体，以及气道损伤和支气管扩张的发病和进展年龄。

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. The PI's have established a consortium of 4 geographically-dispersed clinical research sites that are designed to study rare diseases of the airways. In this protocol one of these disorders Primary Ciliary Dyskinesia (PCD) will be studied. In Primary Ciliary Dyskinesia (PCD) the abnormal structure and function of cilia results in impaired clearance of secretions and consequent obstruction and chronic recurrent infection in the airways, sinuses and middle ears. The clinical manifestations include chronic/recurrent bronchitis and pneumonia, chronic/recurrent sinusitis and chronic otitis media. Chronic airway infection ultimately results in structural damage to the airways, known as bronchiectasis, and loss of lung function. Although it seems likely that the onset of PCD airway disease occurs early in childhood, as has been reported for cystic fibrosis (CF), the clinical course of PCD lung disease is not well-defined, nor, is the time course of emergence of specific microbial pathogens, or the age of onset and rate of progression of airway disease and bronchiectasis. This longitudinal study is designed to define the rate of progression of PCD lung function in subjects between 5-18 years of age, track pathogens infecting the airways, and age at onset and progression of airway damage and bronchiectasis.