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。 PI‘s已经建立了一个由4个地理上分散的临床研究地点组成的联盟，旨在研究罕见的呼吸道疾病。在这个方案中，这些疾病之一的原发性睫状肌运动障碍(PCD)将被研究。在原发性睫状肌运动障碍(PCD)中，纤毛的结构和功能异常导致分泌物清除障碍，进而导致呼吸道、鼻窦和中耳的慢性反复感染。临床表现包括慢性/复发性支气管炎和 肺炎、慢性/复发性鼻窦炎和慢性中耳炎。慢性呼吸道感染最终会导致呼吸道结构性损害，即所谓的支气管扩张症，并导致肺功能丧失。尽管PCD呼吸道疾病似乎很可能发生在儿童早期，就像报道的囊性纤维化(CF)一样，但PCD肺部疾病的临床过程没有明确的定义，特定微生物病原体出现的时间过程，或呼吸道疾病的发病年龄和进展率也没有明确的定义 还有支气管扩张症。 这项纵向研究旨在确定5-18岁受试者中PCD肺功能的进展速度，追踪呼吸道感染的病原体，以及呼吸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.